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rs1057519326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519326(A;G)
Make rs1057519326(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position69956469
GeneMITF
is asnp
is mentioned by
dbSNPrs1057519326
dbSNP (classic)rs1057519326
ClinGenrs1057519326
ebirs1057519326
HLIrs1057519326
Exacrs1057519326
Gnomadrs1057519326
Varsomers1057519326
LitVarrs1057519326
Maprs1057519326
PheGenIrs1057519326
Biobankrs1057519326
1000 genomesrs1057519326
hgdprs1057519326
ensemblrs1057519326
geneviewrs1057519326
scholarrs1057519326
googlers1057519326
pharmgkbrs1057519326
gwascentralrs1057519326
openSNPrs1057519326
23andMers1057519326
23andMe allrs1057519326
SNPshotrs1057519326
SNPdbers1057519326
MSV3drs1057519326
GWAS Ctlgrs1057519326
Max Magnitude0
ClinVar
Risk rs1057519326(G;G)
Alt rs1057519326(G;G)
Reference Rs1057519326(A;A)
Significance Pathogenic
Disease Waardenburg syndrome type 2A Coloboma
Variation info
Gene MITF
CLNDBN Waardenburg syndrome type 2A Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Reversed 0
HGVS NC_000003.11:g.70005620A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000416288.1, RCV000416308.1,