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rs864309689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs864309689(CC;T)
Make rs864309689(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position208128399
GeneCRYGC, LOC100507443
is asnp
is mentioned by
dbSNPrs864309689
dbSNP (old)rs864309689
ClinGenrs864309689
ebirs864309689
HLIrs864309689
Exacrs864309689
Gnomadrs864309689
Varsomers864309689
Maprs864309689
PheGenIrs864309689
Biobankrs864309689
1000 genomesrs864309689
hgdprs864309689
ensemblrs864309689
gopubmedrs864309689
geneviewrs864309689
scholarrs864309689
googlers864309689
pharmgkbrs864309689
gwascentralrs864309689
openSNPrs864309689
23andMers864309689
23andMe allrs864309689
SNP Nexus

SNPshotrs864309689
SNPdbers864309689
MSV3drs864309689
GWAS Ctlgrs864309689
Max Magnitude0
ClinVar
Risk rs864309689(T;T)
Alt rs864309689(T;T)
Reference Rs864309689(CC;CC)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene CRYGC LOC100507443
CLNDBN Congenital cataract
Reversed 1
HGVS NC_000002.11:g.208993123_208993124delGGinsA
CLNSRC
CLNACC RCV000203369.1,