rs200089714

Orientation

plus

Stabilized

plus

Make rs200089714(C;T)

Make rs200089714(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

68906109

Gene

IGHMBP2

is a	snp
is	mentioned by
dbSNP	rs200089714
dbSNP (classic)	rs200089714
ClinGen	rs200089714
ebi	rs200089714
HLI	rs200089714
Exac	rs200089714
Gnomad	rs200089714
Varsome	rs200089714
LitVar	rs200089714
Map	rs200089714
PheGenI	rs200089714
Biobank	rs200089714
1000 genomes	rs200089714
hgdp	rs200089714
ensembl	rs200089714
geneview	rs200089714
scholar	rs200089714
google	rs200089714
pharmgkb	rs200089714
gwascentral	rs200089714
openSNP	rs200089714
23andMe	rs200089714
SNPshot	rs200089714
SNPdbe	rs200089714
MSV3d	rs200089714
GWAS Ctlg	rs200089714

Max Magnitude

0

ClinVar
Risk	rs200089714(G;G) rs200089714(T;T)
Alt	rs200089714(G;G) rs200089714(T;T)
Reference	Rs200089714(C;C)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy Spinal muscular atrophy not provided
Variation	info
Gene	IGHMBP2
CLNDBN	Distal hereditary motor neuronopathy Spinal muscular atrophy, distal, autosomal recessive, 1 not provided
Reversed	0
HGVS	NC_000011.9:g.68673577C>T
CLNSRC
CLNACC	RCV000221711.1, RCV000352968.1, RCV000482426.1,