Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894175(A;A)
Make rs104894175(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position102232043
GenePITX3
is asnp
is mentioned by
dbSNPrs104894175
dbSNP (classic)rs104894175
ClinGenrs104894175
ebirs104894175
HLIrs104894175
Exacrs104894175
Gnomadrs104894175
Varsomers104894175
LitVarrs104894175
Maprs104894175
PheGenIrs104894175
Biobankrs104894175
1000 genomesrs104894175
hgdprs104894175
ensemblrs104894175
geneviewrs104894175
scholarrs104894175
googlers104894175
pharmgkbrs104894175
gwascentralrs104894175
openSNPrs104894175
23andMers104894175
SNPshotrs104894175
SNPdbers104894175
MSV3drs104894175
GWAS Ctlgrs104894175
Max Magnitude0
OMIM602669
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894175(A;A)
Alt rs104894175(A;A)
Reference Rs104894175(G;G)
Significance Pathogenic
Disease Cataract
Variation info
Gene PITX3
CLNDBN Cataract, congenital
Reversed 1
HGVS NC_000010.10:g.103991800C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007351.5,