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rs755799430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs755799430(A;A)
Make rs755799430(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position74259689
GeneVSX2
is asnp
is mentioned by
dbSNPrs755799430
dbSNP (classic)rs755799430
ClinGenrs755799430
ebirs755799430
HLIrs755799430
Exacrs755799430
Gnomadrs755799430
Varsomers755799430
LitVarrs755799430
Maprs755799430
PheGenIrs755799430
Biobankrs755799430
1000 genomesrs755799430
hgdprs755799430
ensemblrs755799430
geneviewrs755799430
scholarrs755799430
googlers755799430
pharmgkbrs755799430
gwascentralrs755799430
openSNPrs755799430
23andMers755799430
SNPshotrs755799430
SNPdbers755799430
MSV3drs755799430
GWAS Ctlgrs755799430
Max Magnitude0
ClinVar
Risk rs755799430(A;A)
Alt rs755799430(A;A)
Reference Rs755799430(G;G)
Significance Pathogenic
Disease Anophthalmia - microphthalmia
Variation info
Gene VSX2
CLNDBN Anophthalmia - microphthalmia
Reversed 0
HGVS NC_000014.8:g.74726392G>A
CLNSRC
CLNACC RCV000207355.1,