rs587781248

Orientation

minus

Stabilized

minus

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

Make rs587781248(A;G)

Make rs587781248(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

86217101

Gene

REEP1

is a	snp
is	mentioned by
dbSNP	rs587781248
dbSNP (classic)	rs587781248
ClinGen	rs587781248
ebi	rs587781248
HLI	rs587781248
Exac	rs587781248
Gnomad	rs587781248
Varsome	rs587781248
LitVar	rs587781248
Map	rs587781248
PheGenI	rs587781248
Biobank	rs587781248
1000 genomes	rs587781248
hgdp	rs587781248
ensembl	rs587781248
geneview	rs587781248
scholar	rs587781248
google	rs587781248
pharmgkb	rs587781248
gwascentral	rs587781248
openSNP	rs587781248
23andMe	rs587781248
SNPshot	rs587781248
SNPdbe	rs587781248
MSV3d	rs587781248
GWAS Ctlg	rs587781248

Max Magnitude

0

ClinVar
Risk	rs587781248(G;G)
Alt	rs587781248(G;G)
Reference	Rs587781248(A;A)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	REEP1
CLNDBN	Charcot-Marie-Tooth disease
Reversed	1
HGVS	NC_000002.11:g.86444224T>C
CLNSRC
CLNACC	RCV000144873.1,