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rs387906858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906858(A;A)
Make rs387906858(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position232768778
GeneGIGYF2, KCNJ13
is asnp
is mentioned by
dbSNPrs387906858
ebirs387906858
HLIrs387906858
Exacrs387906858
Varsomers387906858
Maprs387906858
PheGenIrs387906858
hapmaprs387906858
1000 genomesrs387906858
hgdprs387906858
ensemblrs387906858
gopubmedrs387906858
geneviewrs387906858
scholarrs387906858
googlers387906858
pharmgkbrs387906858
gwascentralrs387906858
openSNPrs387906858
23andMers387906858
23andMe allrs387906858
SNP Nexus

SNPshotrs387906858
SNPdbers387906858
MSV3drs387906858
GWAS Ctlgrs387906858
Max Magnitude0
ClinVar
Risk rs387906858(A;A)
Alt rs387906858(A;A)
Reference rs387906858(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 16
Variation info
Gene GIGYF2 LOC101928854 KCNJ13
CLNDBN Leber congenital amaurosis 16
Reversed 0
HGVS NC_000002.11:g.233633488G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023266.2,