rs63751126

Orientation

plus

Stabilized

plus

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

Make rs63751126(A;C)

Make rs63751126(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

87253798

Gene

CHMP2B

is a	snp
is	mentioned by
dbSNP	rs63751126
dbSNP (classic)	rs63751126
ClinGen	rs63751126
ebi	rs63751126
HLI	rs63751126
Exac	rs63751126
Gnomad	rs63751126
Varsome	rs63751126
LitVar	rs63751126
Map	rs63751126
PheGenI	rs63751126
Biobank	rs63751126
1000 genomes	rs63751126
hgdp	rs63751126
ensembl	rs63751126
geneview	rs63751126
scholar	rs63751126
google	rs63751126
pharmgkb	rs63751126
gwascentral	rs63751126
openSNP	rs63751126
23andMe	rs63751126
SNPshot	rs63751126
SNPdbe	rs63751126
MSV3d	rs63751126
GWAS Ctlg	rs63751126

Max Magnitude

0

OMIM	609512
Desc
Variant	0003
Related	also

ClinVar
Risk	rs63751126(C;C) rs63751126(T;T)
Alt	rs63751126(C;C) rs63751126(T;T)
Reference	Rs63751126(A;A)
Significance	Pathogenic
Disease	Amyotrophic lateral sclerosis 17 Frontotemporal Dementia not provided
Variation	info
Gene	CHMP2B
CLNDBN	Amyotrophic lateral sclerosis 17 Frontotemporal Dementia, Chromosome 3-Linked not provided
Reversed	0
HGVS	NC_000003.11:g.87302948A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001721.3, RCV000020696.1, RCV000084279.1,

[PMID 16807408] ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).