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rs116171274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116171274(A;A)
Make rs116171274(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position64596707
GeneCYP7B1
is asnp
is mentioned by
dbSNPrs116171274
ebirs116171274
HLIrs116171274
Exacrs116171274
Varsomers116171274
Maprs116171274
PheGenIrs116171274
hapmaprs116171274
1000 genomesrs116171274
hgdprs116171274
ensemblrs116171274
gopubmedrs116171274
geneviewrs116171274
scholarrs116171274
googlers116171274
pharmgkbrs116171274
gwascentralrs116171274
openSNPrs116171274
23andMers116171274
23andMe allrs116171274
SNP Nexus

SNPshotrs116171274
SNPdbers116171274
MSV3drs116171274
GWAS Ctlgrs116171274
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs116171274(A;A)
Alt rs116171274(A;A)
Reference rs116171274(G;G)
Significance Pathogenic
Disease Spastic paraplegia 5A Spastic paraplegia
Variation info
Gene CYP7B1
CLNDBN Spastic paraplegia 5A Spastic paraplegia
Reversed 0
HGVS NC_000008.10:g.65509264G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006481.2, RCV000197085.3,