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rs121912544

From SNPedia

Merged intors121912543
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912544(C;C)
Make rs121912544(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74259621
GeneVSX2
is asnp
is mentioned by
dbSNPrs121912544
ebirs121912544
HLIrs121912544
Exacrs121912544
Varsomers121912544
Maprs121912544
PheGenIrs121912544
hapmaprs121912544
1000 genomesrs121912544
hgdprs121912544
ensemblrs121912544
gopubmedrs121912544
geneviewrs121912544
scholarrs121912544
googlers121912544
pharmgkbrs121912544
gwascentralrs121912544
openSNPrs121912544
23andMers121912544
23andMe allrs121912544
SNP Nexus

SNPshotrs121912544
SNPdbers121912544
MSV3drs121912544
GWAS Ctlgrs121912544
StatusMerged into rs121912543
Max Magnitude0
OMIM142993
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912544(C;C)
Alt rs121912544(C;C)
Reference rs121912544(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene VSX2
CLNDBN Microphthalmia, isolated 2
Reversed 0
HGVS NC_000014.8:g.74726324G>C
CLNSRC OMIM Allelic Variant
CLNACC SCV000036254.1,