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rs1057519327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519327(A;A)
Make rs1057519327(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position69956454
GeneMITF
is asnp
is mentioned by
dbSNPrs1057519327
dbSNP (old)rs1057519327
ClinGenrs1057519327
ebirs1057519327
HLIrs1057519327
Exacrs1057519327
Gnomadrs1057519327
Varsomers1057519327
LitVarrs1057519327
Maprs1057519327
PheGenIrs1057519327
Biobankrs1057519327
1000 genomesrs1057519327
hgdprs1057519327
ensemblrs1057519327
gopubmedrs1057519327
geneviewrs1057519327
scholarrs1057519327
googlers1057519327
pharmgkbrs1057519327
gwascentralrs1057519327
openSNPrs1057519327
23andMers1057519327
23andMe allrs1057519327
SNPshotrs1057519327
SNPdbers1057519327
MSV3drs1057519327
GWAS Ctlgrs1057519327
Max Magnitude0
ClinVar
Risk rs1057519327(A;A)
Alt rs1057519327(A;A)
Reference Rs1057519327(G;G)
Significance Pathogenic
Disease Coloboma Waardenburg syndrome type 2A
Variation info
Gene MITF
CLNDBN Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Waardenburg syndrome type 2A
Reversed 0
HGVS NC_000003.11:g.70005605G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000416298.1, RCV000416310.1,