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rs140287375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140287375(C;T)
Make rs140287375(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position88416725
GeneSPATA7
is asnp
is mentioned by
dbSNPrs140287375
ebirs140287375
HLIrs140287375
Exacrs140287375
Varsomers140287375
Maprs140287375
PheGenIrs140287375
hapmaprs140287375
1000 genomesrs140287375
hgdprs140287375
ensemblrs140287375
gopubmedrs140287375
geneviewrs140287375
scholarrs140287375
googlers140287375
pharmgkbrs140287375
gwascentralrs140287375
openSNPrs140287375
23andMers140287375
23andMe allrs140287375
SNP Nexus

SNPshotrs140287375
SNPdbers140287375
MSV3drs140287375
GWAS Ctlgrs140287375
Max Magnitude0
ClinVar
Risk rs140287375(G,T;G,T)
Alt rs140287375(G,T;G,T)
Reference rs140287375(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 3
Variation info
Gene SPATA7
CLNDBN Leber congenital amaurosis 3
Reversed 0
HGVS NC_000014.8:g.88883069C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023791.3,