rs149617956

This variant is located in the MITF gene.

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum creatinine amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.22
p 1.0e-22
N 421,910
Major Consortium StudyLarge GWAS
European

skin cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.33
p 8.0e-15
N 431,198
Major Consortium StudyLarge GWAS
European

skin neoplasm

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.34
p 2.0e-12
N 398,106
Major Consortium StudyLarge GWAS
European

non-neoplastic nevus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.58
p 3.0e-11
N 600,135
Major Consortium StudyLarge GWAS
multi-ancestry

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele A
OR 0.10
p 3.0e-9
N 684,122
Large GWAS
European

cutaneous melanoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.48
p 1.0e-19
N 434,871
Major Consortium StudyLarge GWAS
European
Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele G
OR 2.63
p 5.0e-25
N 411,948
Large GWAS
European

glomerular filtration rate

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.15
p 3.0e-13
N 398,886
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★★★☆
31 submitters45 publications

Melanoma, cutaneous malignant, susceptibility to, 8; Hereditary cancer-predisposing syndrome; not specified; not provided; Tietz syndrome;Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8; Melanoma; Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8; Tietz syndrome; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Tietz syndrome;Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8; MITF-related disorder; Familial melanoma

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About MITF

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

View all MITF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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