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rs1057519325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519325(C;C)
Make rs1057519325(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position69951870
GeneMITF
is asnp
is mentioned by
dbSNPrs1057519325
dbSNP (old)rs1057519325
ClinGenrs1057519325
ebirs1057519325
HLIrs1057519325
Exacrs1057519325
Gnomadrs1057519325
Varsomers1057519325
LitVarrs1057519325
Maprs1057519325
PheGenIrs1057519325
Biobankrs1057519325
1000 genomesrs1057519325
hgdprs1057519325
ensemblrs1057519325
gopubmedrs1057519325
geneviewrs1057519325
scholarrs1057519325
googlers1057519325
pharmgkbrs1057519325
gwascentralrs1057519325
openSNPrs1057519325
23andMers1057519325
23andMe allrs1057519325
SNPshotrs1057519325
SNPdbers1057519325
MSV3drs1057519325
GWAS Ctlgrs1057519325
Max Magnitude0
ClinVar
Risk rs1057519325(C;C)
Alt rs1057519325(C;C)
Reference Rs1057519325(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.70001021G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000416286.1, RCV000416300.1,