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rs80044281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80044281(C;T)
Make rs80044281(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position88416794
GeneSPATA7
is asnp
is mentioned by
dbSNPrs80044281
ebirs80044281
HLIrs80044281
Exacrs80044281
Varsomers80044281
Maprs80044281
PheGenIrs80044281
hapmaprs80044281
1000 genomesrs80044281
hgdprs80044281
ensemblrs80044281
gopubmedrs80044281
geneviewrs80044281
scholarrs80044281
googlers80044281
pharmgkbrs80044281
gwascentralrs80044281
openSNPrs80044281
23andMers80044281
23andMe allrs80044281
SNP Nexus

SNPshotrs80044281
SNPdbers80044281
MSV3drs80044281
GWAS Ctlgrs80044281
Max Magnitude0
OMIM609868
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80044281(A,T;A,T)
Alt rs80044281(A,T;A,T)
Reference rs80044281(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.88883138C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001460.2,


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