rs483352924

Orientation

plus

Stabilized

plus

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

Make rs483352924(G;T)

Make rs483352924(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

138441091

Gene

REEP2

is a	snp
is	mentioned by
dbSNP	rs483352924
dbSNP (classic)	rs483352924
ClinGen	rs483352924
ebi	rs483352924
HLI	rs483352924
Exac	rs483352924
Gnomad	rs483352924
Varsome	rs483352924
LitVar	rs483352924
Map	rs483352924
PheGenI	rs483352924
Biobank	rs483352924
1000 genomes	rs483352924
hgdp	rs483352924
ensembl	rs483352924
geneview	rs483352924
scholar	rs483352924
google	rs483352924
pharmgkb	rs483352924
gwascentral	rs483352924
openSNP	rs483352924
23andMe	rs483352924
SNPshot	rs483352924
SNPdbe	rs483352924
MSV3d	rs483352924
GWAS Ctlg	rs483352924

Max Magnitude

0

ClinVar
Risk	rs483352924(T;T)
Alt	rs483352924(T;T)
Reference	Rs483352924(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 72
Variation	info
Gene	REEP2
CLNDBN	Spastic paraplegia 72, autosomal recessive
Reversed	0
HGVS	NC_000005.9:g.137776780G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083254.5,