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rs121912543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912543(A;A)
Make rs121912543(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74259621
GeneVSX2
is asnp
is mentioned by
dbSNPrs121912543
ebirs121912543
HLIrs121912543
Exacrs121912543
Varsomers121912543
Maprs121912543
PheGenIrs121912543
hapmaprs121912543
1000 genomesrs121912543
hgdprs121912543
ensemblrs121912543
gopubmedrs121912543
geneviewrs121912543
scholarrs121912543
googlers121912543
pharmgkbrs121912543
gwascentralrs121912543
openSNPrs121912543
23andMers121912543
23andMe allrs121912543
SNP Nexus

SNPshotrs121912543
SNPdbers121912543
MSV3drs121912543
GWAS Ctlgrs121912543
Merged fromRs121912544
Max Magnitude0
OMIM142993
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912543(A,C;A,C)
Alt rs121912543(A,C;A,C)
Reference rs121912543(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene VSX2
CLNDBN Microphthalmia, cataracts, and iris abnormalities Microphthalmia, isolated 2
Reversed 0
HGVS NC_000014.8:g.74726324G>A; NC_000014.8:g.74726324G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015985.25, RCV000015986.25, RCV000015987.25,