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rs398122948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122948(A;A)
Make rs398122948(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position208121796
GeneCRYGD, LOC100507443
is asnp
is mentioned by
dbSNPrs398122948
dbSNP (classic)rs398122948
ClinGenrs398122948
ebirs398122948
HLIrs398122948
Exacrs398122948
Gnomadrs398122948
Varsomers398122948
LitVarrs398122948
Maprs398122948
PheGenIrs398122948
Biobankrs398122948
1000 genomesrs398122948
hgdprs398122948
ensemblrs398122948
geneviewrs398122948
scholarrs398122948
googlers398122948
pharmgkbrs398122948
gwascentralrs398122948
openSNPrs398122948
23andMers398122948
SNPshotrs398122948
SNPdbers398122948
MSV3drs398122948
GWAS Ctlgrs398122948
Max Magnitude0
ClinVar
Risk rs398122948(A;A) rs398122948(T;T)
Alt rs398122948(A;A) rs398122948(T;T)
Reference Rs398122948(C;C)
Significance Pathogenic
Disease Cataract 4
Variation info
Gene LOC100507443 CRYGD
CLNDBN Cataract 4
Reversed 1
HGVS NC_000002.11:g.208986520G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000059331.27,