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rs75895925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75895925(C;T)
Make rs75895925(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position88437565
GeneSPATA7
is asnp
is mentioned by
dbSNPrs75895925
ebirs75895925
HLIrs75895925
Exacrs75895925
Varsomers75895925
Maprs75895925
PheGenIrs75895925
hapmaprs75895925
1000 genomesrs75895925
hgdprs75895925
ensemblrs75895925
gopubmedrs75895925
geneviewrs75895925
scholarrs75895925
googlers75895925
pharmgkbrs75895925
gwascentralrs75895925
openSNPrs75895925
23andMers75895925
23andMe allrs75895925
SNP Nexus

SNPshotrs75895925
SNPdbers75895925
MSV3drs75895925
GWAS Ctlgrs75895925
Max Magnitude0
OMIM609868
Desc
Variant0003
Relatedalso
ClinVar
Risk rs75895925(T;T)
Alt rs75895925(T;T)
Reference rs75895925(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.88903909C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001462.2,


[PMID 19268277OA-icon.png] Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.