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rs63751126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63751126(A;C)
Make rs63751126(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position87253798
GeneCHMP2B
is asnp
is mentioned by
dbSNPrs63751126
ebirs63751126
HLIrs63751126
Exacrs63751126
Varsomers63751126
Maprs63751126
PheGenIrs63751126
hapmaprs63751126
1000 genomesrs63751126
hgdprs63751126
ensemblrs63751126
gopubmedrs63751126
geneviewrs63751126
scholarrs63751126
googlers63751126
pharmgkbrs63751126
gwascentralrs63751126
openSNPrs63751126
23andMers63751126
23andMe allrs63751126
SNP Nexus

SNPshotrs63751126
SNPdbers63751126
MSV3drs63751126
GWAS Ctlgrs63751126
Max Magnitude0
OMIM609512
Desc
Variant0003
Relatedalso
ClinVar
Risk rs63751126(C,T;C,T)
Alt rs63751126(C,T;C,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
CLNACC RCV000001721.3, RCV000020696.1, RCV000084279.1,


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