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rs104893618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893618(A;C)
Make rs104893618(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position208129680
GeneCRYGC, LOC100507443
is asnp
is mentioned by
dbSNPrs104893618
dbSNP (classic)rs104893618
ClinGenrs104893618
ebirs104893618
HLIrs104893618
Exacrs104893618
Gnomadrs104893618
Varsomers104893618
LitVarrs104893618
Maprs104893618
PheGenIrs104893618
Biobankrs104893618
1000 genomesrs104893618
hgdprs104893618
ensemblrs104893618
geneviewrs104893618
scholarrs104893618
googlers104893618
pharmgkbrs104893618
gwascentralrs104893618
openSNPrs104893618
23andMers104893618
SNPshotrs104893618
SNPdbers104893618
MSV3drs104893618
GWAS Ctlgrs104893618
Max Magnitude0
OMIM123680
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893618(C;C)
Alt rs104893618(C;C)
Reference Rs104893618(A;A)
Significance Pathogenic
Disease Cataract 2
Variation info
Gene CRYGC LOC100507443
CLNDBN Cataract 2, Coppock-like
Reversed 1
HGVS NC_000002.11:g.208994404T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018452.28,