rs211694394

Orientation

plus

Stabilized

plus

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

Make rs211694394(A;T)

Make rs211694394(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

17286379

Gene

VPS37A

is a	snp
is	mentioned by
dbSNP	rs211694394
dbSNP (classic)	rs211694394
ClinGen	rs211694394
ebi	rs211694394
HLI	rs211694394
Exac	rs211694394
Gnomad	rs211694394
Varsome	rs211694394
LitVar	rs211694394
Map	rs211694394
PheGenI	rs211694394
Biobank	rs211694394
1000 genomes	rs211694394
hgdp	rs211694394
ensembl	rs211694394
geneview	rs211694394
scholar	rs211694394
google	rs211694394
pharmgkb	rs211694394
gwascentral	rs211694394
openSNP	rs211694394
23andMe	rs211694394
SNPshot	rs211694394
SNPdbe	rs211694394
MSV3d	rs211694394
GWAS Ctlg	rs211694394

Max Magnitude

0

ClinVar
Risk	rs211694394(G;G) rs211694394(T;T)
Alt	rs211694394(G;G) rs211694394(T;T)
Reference	Rs211694394(A;A)
Significance	Pathogenic
Disease	Spastic paraplegia 53
Variation	info
Gene	VPS37A
CLNDBN	Spastic paraplegia 53, autosomal recessive
Reversed	0
HGVS	NC_000008.10:g.17143888A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032956.4,