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rs762631020

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762631020(A;A)
Make rs762631020(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position211481236
GeneRD3
is asnp
is mentioned by
dbSNPrs762631020
ebirs762631020
HLIrs762631020
Exacrs762631020
Varsomers762631020
Maprs762631020
PheGenIrs762631020
hapmaprs762631020
1000 genomesrs762631020
hgdprs762631020
ensemblrs762631020
gopubmedrs762631020
geneviewrs762631020
scholarrs762631020
googlers762631020
pharmgkbrs762631020
gwascentralrs762631020
openSNPrs762631020
23andMers762631020
23andMe allrs762631020
SNP Nexus

SNPshotrs762631020
SNPdbers762631020
MSV3drs762631020
GWAS Ctlgrs762631020
Max Magnitude0
ClinVar
Risk rs762631020(A;A)
Alt rs762631020(A;A)
Reference rs762631020(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 12
Variation info
Gene RD3
CLNDBN Leber congenital amaurosis 12
Reversed 0
HGVS NC_000001.10:g.211654578G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170305.3,