rs397514514

Orientation

plus

Stabilized

plus

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

Make rs397514514(A;G)

Make rs397514514(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

107947388

Gene	CYP2U1, LOC107986298

is a	snp
is	mentioned by
dbSNP	rs397514514
dbSNP (classic)	rs397514514
ClinGen	rs397514514
ebi	rs397514514
HLI	rs397514514
Exac	rs397514514
Gnomad	rs397514514
Varsome	rs397514514
LitVar	rs397514514
Map	rs397514514
PheGenI	rs397514514
Biobank	rs397514514
1000 genomes	rs397514514
hgdp	rs397514514
ensembl	rs397514514
geneview	rs397514514
scholar	rs397514514
google	rs397514514
pharmgkb	rs397514514
gwascentral	rs397514514
openSNP	rs397514514
23andMe	rs397514514
SNPshot	rs397514514
SNPdbe	rs397514514
MSV3d	rs397514514
GWAS Ctlg	rs397514514

Max Magnitude

0

ClinVar
Risk	rs397514514(G;G)
Alt	rs397514514(G;G)
Reference	Rs397514514(A;A)
Significance	Pathogenic
Disease	Spastic paraplegia 56
Variation	info
Gene	CYP2U1
CLNDBN	Spastic paraplegia 56, autosomal recessive
Reversed	0
HGVS	NC_000004.11:g.108868544A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032697.3,