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rs121912545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912545(C;T)
Make rs121912545(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74259701
GeneVSX2
is asnp
is mentioned by
dbSNPrs121912545
ebirs121912545
HLIrs121912545
Exacrs121912545
Varsomers121912545
Maprs121912545
PheGenIrs121912545
hapmaprs121912545
1000 genomesrs121912545
hgdprs121912545
ensemblrs121912545
gopubmedrs121912545
geneviewrs121912545
scholarrs121912545
googlers121912545
pharmgkbrs121912545
gwascentralrs121912545
openSNPrs121912545
23andMers121912545
23andMe allrs121912545
SNP Nexus

SNPshotrs121912545
SNPdbers121912545
MSV3drs121912545
GWAS Ctlgrs121912545
Max Magnitude0
OMIM142993
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912545(T;T)
Alt rs121912545(T;T)
Reference rs121912545(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene VSX2
CLNDBN Microphthalmia, isolated 2
Reversed 0
HGVS NC_000014.8:g.74726404C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015988.21,