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rs28931605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
(T;T) 0 common in complete genomics
Make rs28931605(A;A)
Make rs28931605(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position208124294
GeneCRYGD
is asnp
is mentioned by
dbSNPrs28931605
ebirs28931605
HLIrs28931605
Exacrs28931605
Varsomers28931605
Maprs28931605
PheGenIrs28931605
hapmaprs28931605
1000 genomesrs28931605
hgdprs28931605
ensemblrs28931605
gopubmedrs28931605
geneviewrs28931605
scholarrs28931605
googlers28931605
pharmgkbrs28931605
gwascentralrs28931605
openSNPrs28931605
23andMers28931605
23andMe allrs28931605
SNP Nexus

SNPshotrs28931605
SNPdbers28931605
MSV3drs28931605
GWAS Ctlgrs28931605
Max Magnitude0
OMIM123690
DescCATARACT, CONGENITAL LAMELLAR
Variant0004
Relatedalso
OMIM123690
Desc
Variant0007
Relatedalso


ClinVar
Risk rs28931605(A,T;A,T)
Alt rs28931605(A,T;A,T)
Reference rs28931605(C;C)
Significance Pathogenic
Disease Cataract 4 Congenital cataract
Variation info
Gene LOC100507443 CRYGD
CLNDBN Cataract 4 Congenital cataract
Reversed 1
HGVS NC_000002.11:g.208989018G>A; NC_000002.11:g.208989018G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018451.30, RCV000018448.30, RCV000203330.1,