rs116171274

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs116171274(A;A)

Make rs116171274(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

64596707

Gene

CYP7B1

is a	snp
is	mentioned by
dbSNP	rs116171274
dbSNP (classic)	rs116171274
ClinGen	rs116171274
ebi	rs116171274
HLI	rs116171274
Exac	rs116171274
Gnomad	rs116171274
Varsome	rs116171274
LitVar	rs116171274
Map	rs116171274
PheGenI	rs116171274
Biobank	rs116171274
1000 genomes	rs116171274
hgdp	rs116171274
ensembl	rs116171274
geneview	rs116171274
scholar	rs116171274
google	rs116171274
pharmgkb	rs116171274
gwascentral	rs116171274
openSNP	rs116171274
23andMe	rs116171274
SNPshot	rs116171274
SNPdbe	rs116171274
MSV3d	rs116171274
GWAS Ctlg	rs116171274

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs116171274(A;A) rs116171274(T;T)
Alt	rs116171274(A;A) rs116171274(T;T)
Reference	Rs116171274(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 5A Spastic paraplegia not provided Spastic Paraplegia Congenital Bile Acid Synthesis Defect not specified
Variation	info
Gene	CYP7B1
CLNDBN	Spastic paraplegia 5A Spastic paraplegia not provided Spastic Paraplegia, Recessive Congenital Bile Acid Synthesis Defect not specified
Reversed	0
HGVS	NC_000008.10:g.65509264G>A; NC_000008.10:g.65509264G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006481.3, RCV000197085.4, RCV000290486.2, RCV000309082.1, RCV000366125.1, RCV000489784.1,