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rs74315440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315440(A;A)
Make rs74315440(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43169126
GeneCRYAA
is asnp
is mentioned by
dbSNPrs74315440
ebirs74315440
HLIrs74315440
Exacrs74315440
Varsomers74315440
Maprs74315440
PheGenIrs74315440
hapmaprs74315440
1000 genomesrs74315440
hgdprs74315440
ensemblrs74315440
gopubmedrs74315440
geneviewrs74315440
scholarrs74315440
googlers74315440
pharmgkbrs74315440
gwascentralrs74315440
openSNPrs74315440
23andMers74315440
23andMe allrs74315440
SNP Nexus

SNPshotrs74315440
SNPdbers74315440
MSV3drs74315440
GWAS Ctlgrs74315440
Max Magnitude0
OMIM123580
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315440(A;A)
Alt rs74315440(A;A)
Reference rs74315440(G;G)
Significance Pathogenic
Disease Cataract 9
Variation info
Gene LOC102724652 CRYAA
CLNDBN Cataract 9, autosomal recessive
Reversed 0
HGVS NC_000021.8:g.44589236G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018471.28,