rs121918263

Orientation

minus

Stabilized

minus

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

Make rs121918263(C;T)

Make rs121918263(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

86252037

Gene

REEP1

is a	snp
is	mentioned by
dbSNP	rs121918263
dbSNP (classic)	rs121918263
ClinGen	rs121918263
ebi	rs121918263
HLI	rs121918263
Exac	rs121918263
Gnomad	rs121918263
Varsome	rs121918263
LitVar	rs121918263
Map	rs121918263
PheGenI	rs121918263
Biobank	rs121918263
1000 genomes	rs121918263
hgdp	rs121918263
ensembl	rs121918263
geneview	rs121918263
scholar	rs121918263
google	rs121918263
pharmgkb	rs121918263
gwascentral	rs121918263
openSNP	rs121918263
23andMe	rs121918263
SNPshot	rs121918263
SNPdbe	rs121918263
MSV3d	rs121918263
GWAS Ctlg	rs121918263

Max Magnitude

0

OMIM	609139
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918263(T;T)
Alt	rs121918263(T;T)
Reference	Rs121918263(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 31
Variation	info
Gene	REEP1
CLNDBN	Spastic paraplegia 31, autosomal dominant
Reversed	1
HGVS	NC_000002.11:g.86479160G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001940.2,