WFS1
wolframin ER transmembrane glycoprotein
Summary
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Known Variants1,333 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4689388 | 4:6,270,056 | G/A | upstream gene variant | — |
| rs4320200 | 4:6,271,043 | A/C | — | — |
| rs13107806 | 4:6,271,071 | T/A | — | — |
| rs13127445 | 4:6,271,150 | C/A | — | — |
| rs4273545 | 4:6,271,416 | G/T | regulatory region variant | benign |
| rs71537683 | 4:6,271,483 | A/G | — | likely benign |
| rs1729743199 | 4:6,271,563 | T/A | — | likely benign |
| rs2474147630 | 4:6,271,575 | T/A | — | likely benign |
| rs542977017 | 4:6,271,599 | G/T | — | conflicting classifications of pathogenicity |
| rs373287522 | 4:6,271,606 | A/G | — | conflicting classifications of pathogenicity |
| rs886059521 | 4:6,271,614 | G/T | — | conflicting classifications of pathogenicity |
| rs576284630 | 4:6,271,617 | C/T | — | conflicting classifications of pathogenicity |
| rs886059522 | 4:6,271,618 | A/G | — | conflicting classifications of pathogenicity |
| rs542116747 | 4:6,271,620 | A/G | — | conflicting classifications of pathogenicity |
| rs868329184 | 4:6,271,641 | A/G | — | conflicting classifications of pathogenicity |
| rs886059523 | 4:6,271,642 | T/G | — | conflicting classifications of pathogenicity |
| rs886059524 | 4:6,271,647 | C/G | — | uncertain significance |
| rs1729749153 | 4:6,271,654 | G/C | — | conflicting classifications of pathogenicity |
| rs886059525 | 4:6,271,692 | C/G | — | uncertain significance |
| rs1578579501 | 4:6,271,704 | G/C | — | conflicting classifications of pathogenicity |
| rs527868928 | 4:6,271,720 | C/T | — | likely benign |
| rs547998667 | 4:6,271,752 | C/T | — | likely benign |
| rs1025146194 | 4:6,271,755 | C/A | — | benign |
| rs6830765 | 4:6,271,826 | C/T | — | benign |
| rs548990311 | 4:6,271,970 | G/C | — | benign |
| rs79944860 | 4:6,273,565 | G/C | — | uncertain significance |
| rs78937805 | 4:6,277,769 | G/T | — | uncertain significance |
| rs79271440 | 4:6,278,923 | G/C | — | benign |
| rs112770295 | 4:6,278,973 | G/C | — | benign |
| rs185572873 | 4:6,279,044 | T/C | — | likely benign |
| rs10937714 | 4:6,279,047 | T/C | — | benign |
| rs746340627 | 4:6,279,179 | C/T | — | conflicting classifications of pathogenicity |
| rs71524363 | 4:6,279,191 | C/T | — | benign |
| rs1432704019 | 4:6,279,201 | C/T | — | uncertain significance |
| rs138165486 | 4:6,279,202 | C/T | — | uncertain significance |
| rs372928810 | 4:6,279,203 | G/T | — | likely benign |
| rs760256649 | 4:6,279,210 | C/T | — | conflicting classifications of pathogenicity |
| rs1209402144 | 4:6,279,211 | C/T | — | uncertain significance |
| rs1185590827 | 4:6,279,215 | C/A | — | likely benign |
| rs142651446 | 4:6,279,223 | A/G | — | likely benign |
| rs2474157315 | 4:6,279,226 | C/A | — | uncertain significance |
| rs759435282 | 4:6,279,227 | C/T | — | likely benign |
| rs34653805 | 4:6,279,229 | C/T | — | uncertain significance |
| rs765003357 | 4:6,279,230 | G/A | — | likely benign |
| rs376335216 | 4:6,279,238 | C/T | — | conflicting classifications of pathogenicity |
| rs1282394241 | 4:6,279,239 | G/A | — | likely benign |
| rs1417020694 | 4:6,279,240 | C/T | — | pathogenic |
| rs757447631 | 4:6,279,243 | C/G | — | uncertain significance |
| rs2109107923 | 4:6,279,249 | G/T | — | uncertain significance |
| rs1040106557 | 4:6,279,250 | C/T | — | uncertain significance |
| rs750859280 | 4:6,279,251 | G/A | — | likely benign |
| rs756667462 | 4:6,279,252 | C/T | — | uncertain significance |
| rs71524364 | 4:6,279,253 | G/A | — | uncertain significance |
| rs747658523 | 4:6,279,258 | C/T | — | pathogenic |
| rs551867477 | 4:6,279,259 | G/A | — | uncertain significance |
| rs777168956 | 4:6,279,263 | C/T | — | uncertain significance |
| rs397517198 | 4:6,279,265 | A/G | — | uncertain significance |
| rs550975729 | 4:6,279,274 | C/G | — | conflicting classifications of pathogenicity |
| rs727504730 | 4:6,279,277 | C/T | — | uncertain significance |
| rs71539660 | 4:6,279,278 | G/A | — | likely benign |
| rs1250693798 | 4:6,279,286 | A/G | — | uncertain significance |
| rs1410366397 | 4:6,279,287 | G/T | — | uncertain significance |
| rs1348736420 | 4:6,279,290 | G/A | — | likely benign |
| rs1225406956 | 4:6,279,292 | G/C | — | uncertain significance |
| rs775342800 | 4:6,279,295 | G/A | — | uncertain significance |
| rs531593902 | 4:6,279,296 | C/T | — | conflicting classifications of pathogenicity |
| rs774330485 | 4:6,279,297 | G/T | — | likely pathogenic |
| rs1483562169 | 4:6,279,304 | C/T | — | uncertain significance |
| rs71530923 | 4:6,279,306 | C/T | stop gained | pathogenic |
| rs750806151 | 4:6,279,307 | G/A | — | conflicting classifications of pathogenicity |
| rs1179583724 | 4:6,279,309 | G/A | — | uncertain significance |
| rs727503746 | 4:6,279,310 | C/T | — | conflicting classifications of pathogenicity |
| rs566876793 | 4:6,279,311 | A/T | — | likely benign |
| rs766861457 | 4:6,279,312 | C/A | — | uncertain significance |
| rs754346893 | 4:6,279,314 | C/T | — | conflicting classifications of pathogenicity |
| rs1014892217 | 4:6,279,315 | G/A | — | uncertain significance |
| rs777306477 | 4:6,279,318 | C/T | — | uncertain significance |
| rs1430113884 | 4:6,279,320 | C/T | — | likely benign |
| rs1730035977 | 4:6,279,322 | A/G | — | uncertain significance |
| rs397517195 | 4:6,279,325 | C/T | — | conflicting classifications of pathogenicity |
| rs111773340 | 4:6,279,336 | C/A | — | conflicting classifications of pathogenicity |
| rs1324272693 | 4:6,279,339 | G/C | — | uncertain significance |
| rs2109108045 | 4:6,279,340 | G/T | — | uncertain significance |
| rs2109108048 | 4:6,279,346 | G/A | — | uncertain significance |
| rs1272094309 | 4:6,279,348 | G/A | — | uncertain significance |
| rs112598170 | 4:6,279,350 | C/T | — | conflicting classifications of pathogenicity |
| rs372783392 | 4:6,279,351 | G/T | — | conflicting classifications of pathogenicity |
| rs1057524887 | 4:6,279,354 | G/A | — | conflicting classifications of pathogenicity |
| rs369671890 | 4:6,279,355 | C/T | — | conflicting classifications of pathogenicity |
| rs1362203159 | 4:6,279,356 | G/A | — | likely benign |
| rs867512186 | 4:6,279,357 | G/T | — | uncertain significance |
| rs71524365 | 4:6,279,358 | C/T | — | uncertain significance |
| rs1450499322 | 4:6,279,362 | C/T | — | likely benign |
| rs768520452 | 4:6,279,363 | G/A | — | uncertain significance |
| rs761858383 | 4:6,279,374 | G/A | — | likely benign |
| rs1730038922 | 4:6,279,382 | A/C | — | uncertain significance |
| rs767777366 | 4:6,279,385 | C/T | — | uncertain significance |
| rs1315673348 | 4:6,279,386 | C/A | — | likely benign |
| rs773502513 | 4:6,279,393 | C/T | — | uncertain significance |
| rs537004839 | 4:6,279,394 | G/A | — | uncertain significance |
Showing 100 of 1,333 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.