rs137852665

Orientation

plus

Stabilized

plus

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

Make rs137852665(A;A)

Make rs137852665(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68934466

Gene

IGHMBP2

is a	snp
is	mentioned by
dbSNP	rs137852665
dbSNP (classic)	rs137852665
ClinGen	rs137852665
ebi	rs137852665
HLI	rs137852665
Exac	rs137852665
Gnomad	rs137852665
Varsome	rs137852665
LitVar	rs137852665
Map	rs137852665
PheGenI	rs137852665
Biobank	rs137852665
1000 genomes	rs137852665
hgdp	rs137852665
ensembl	rs137852665
geneview	rs137852665
scholar	rs137852665
google	rs137852665
pharmgkb	rs137852665
gwascentral	rs137852665
openSNP	rs137852665
23andMe	rs137852665
SNPshot	rs137852665
SNPdbe	rs137852665
MSV3d	rs137852665
GWAS Ctlg	rs137852665

Max Magnitude

0

OMIM	600502
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852665(A;A)
Alt	rs137852665(A;A)
Reference	Rs137852665(G;G)
Significance	Pathogenic
Disease	Werdnig-Hoffmann disease Spinal muscular atrophy not provided
Variation	info
Gene	IGHMBP2
CLNDBN	Werdnig-Hoffmann disease Spinal muscular atrophy, distal, autosomal recessive, 1 not provided
Reversed	0
HGVS	NC_000011.9:g.68701934G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009682.3, RCV000235071.1, RCV000235520.1,