Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204787

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204787(C;C)
Make rs786204787(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position88391457
GeneSPATA7
is asnp
is mentioned by
dbSNPrs786204787
ebirs786204787
HLIrs786204787
Exacrs786204787
Varsomers786204787
Maprs786204787
PheGenIrs786204787
hapmaprs786204787
1000 genomesrs786204787
hgdprs786204787
ensemblrs786204787
gopubmedrs786204787
geneviewrs786204787
scholarrs786204787
googlers786204787
pharmgkbrs786204787
gwascentralrs786204787
openSNPrs786204787
23andMers786204787
23andMe allrs786204787
SNP Nexus

SNPshotrs786204787
SNPdbers786204787
MSV3drs786204787
GWAS Ctlgrs786204787
Max Magnitude0
ClinVar
Risk rs786204787(C;C)
Alt rs786204787(C;C)
Reference rs786204787(T;T)
Significance Probable-Pathogenic
Disease Leber congenital amaurosis 3
Variation info
Gene SPATA7
CLNDBN Leber congenital amaurosis 3
Reversed 0
HGVS NC_000014.8:g.88857801T>C
CLNSRC
CLNACC RCV000169677.1,