rs137852666

Orientation

plus

Stabilized

plus

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

Make rs137852666(A;G)

Make rs137852666(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68911530

Gene

IGHMBP2

is a	snp
is	mentioned by
dbSNP	rs137852666
dbSNP (classic)	rs137852666
ClinGen	rs137852666
ebi	rs137852666
HLI	rs137852666
Exac	rs137852666
Gnomad	rs137852666
Varsome	rs137852666
LitVar	rs137852666
Map	rs137852666
PheGenI	rs137852666
Biobank	rs137852666
1000 genomes	rs137852666
hgdp	rs137852666
ensembl	rs137852666
geneview	rs137852666
scholar	rs137852666
google	rs137852666
pharmgkb	rs137852666
gwascentral	rs137852666
openSNP	rs137852666
23andMe	rs137852666
SNPshot	rs137852666
SNPdbe	rs137852666
MSV3d	rs137852666
GWAS Ctlg	rs137852666

Max Magnitude

0

OMIM	600502
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852666(G;G)
Alt	rs137852666(G;G)
Reference	Rs137852666(A;A)
Significance	Pathogenic
Disease	Werdnig-Hoffmann disease
Variation	info
Gene	IGHMBP2
CLNDBN	Werdnig-Hoffmann disease
Reversed	0
HGVS	NC_000011.9:g.68678998A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009683.5,