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rs143607153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143607153(A;T)
Make rs143607153(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232768552
GeneGIGYF2, KCNJ13
is asnp
is mentioned by
dbSNPrs143607153
ebirs143607153
HLIrs143607153
Exacrs143607153
Varsomers143607153
Maprs143607153
PheGenIrs143607153
hapmaprs143607153
1000 genomesrs143607153
hgdprs143607153
ensemblrs143607153
gopubmedrs143607153
geneviewrs143607153
scholarrs143607153
googlers143607153
pharmgkbrs143607153
gwascentralrs143607153
openSNPrs143607153
23andMers143607153
23andMe allrs143607153
SNP Nexus

SNPshotrs143607153
SNPdbers143607153
MSV3drs143607153
GWAS Ctlgrs143607153
Max Magnitude0
ClinVar
Risk rs143607153(G,T;G,T)
Alt rs143607153(G,T;G,T)
Reference rs143607153(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 16
Variation info
Gene LOC101928854 KCNJ13 GIGYF2
CLNDBN Leber congenital amaurosis 16
Reversed 0
HGVS NC_000002.11:g.233633262A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023267.2,