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rs786205550

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205550(A;G)
Make rs786205550(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position232771004
GeneGIGYF2, KCNJ13
is asnp
is mentioned by
dbSNPrs786205550
ebirs786205550
HLIrs786205550
Exacrs786205550
Varsomers786205550
Maprs786205550
PheGenIrs786205550
hapmaprs786205550
1000 genomesrs786205550
hgdprs786205550
ensemblrs786205550
gopubmedrs786205550
geneviewrs786205550
scholarrs786205550
googlers786205550
pharmgkbrs786205550
gwascentralrs786205550
openSNPrs786205550
23andMers786205550
23andMe allrs786205550
SNP Nexus

SNPshotrs786205550
SNPdbers786205550
MSV3drs786205550
GWAS Ctlgrs786205550
Max Magnitude0
ClinVar
Risk rs786205550(G;G)
Alt rs786205550(G;G)
Reference rs786205550(A;A)
Significance Pathogenic
Disease not provided Leber congenital amaurosis 16
Variation info
Gene GIGYF2 LOC101928854 KCNJ13
CLNDBN not provided Leber congenital amaurosis 16
Reversed 0
HGVS NC_000002.11:g.233635714A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000171339.1, RCV000210435.1,