rs863224880

Orientation

plus

Stabilized

plus

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

Make rs863224880(A;A)

Make rs863224880(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

68906074

Gene

IGHMBP2

is a	snp
is	mentioned by
dbSNP	rs863224880
dbSNP (classic)	rs863224880
ClinGen	rs863224880
ebi	rs863224880
HLI	rs863224880
Exac	rs863224880
Gnomad	rs863224880
Varsome	rs863224880
LitVar	rs863224880
Map	rs863224880
PheGenI	rs863224880
Biobank	rs863224880
1000 genomes	rs863224880
hgdp	rs863224880
ensembl	rs863224880
geneview	rs863224880
scholar	rs863224880
google	rs863224880
pharmgkb	rs863224880
gwascentral	rs863224880
openSNP	rs863224880
23andMe	rs863224880
SNPshot	rs863224880
SNPdbe	rs863224880
MSV3d	rs863224880
GWAS Ctlg	rs863224880

Max Magnitude

0

ClinVar
Risk	rs863224880(A;A)
Alt	rs863224880(A;A)
Reference	Rs863224880(G;G)
Significance	Probable-Pathogenic
Disease	Spinal muscular atrophy
Variation	info
Gene	IGHMBP2
CLNDBN	Spinal muscular atrophy, distal, autosomal recessive, 1
Reversed	0
HGVS	NC_000011.9:g.68673542G>A
CLNSRC
CLNACC	RCV000195889.1,