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rs869320631

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320631(A;A)
Make rs869320631(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position232771205
GeneGIGYF2, KCNJ13
is asnp
is mentioned by
dbSNPrs869320631
ebirs869320631
HLIrs869320631
Exacrs869320631
Varsomers869320631
Maprs869320631
PheGenIrs869320631
hapmaprs869320631
1000 genomesrs869320631
hgdprs869320631
ensemblrs869320631
gopubmedrs869320631
geneviewrs869320631
scholarrs869320631
googlers869320631
pharmgkbrs869320631
gwascentralrs869320631
openSNPrs869320631
23andMers869320631
23andMe allrs869320631
SNP Nexus

SNPshotrs869320631
SNPdbers869320631
MSV3drs869320631
GWAS Ctlgrs869320631
Max Magnitude0
ClinVar
Risk rs869320631(A;A)
Alt rs869320631(A;A)
Reference rs869320631(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 16
Variation info
Gene KCNJ13 LOC101928854 GIGYF2
CLNDBN Leber congenital amaurosis 16
Reversed 1
HGVS NC_000002.11:g.233635915C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210439.1,