Have questions? Visit https://www.reddit.com/r/SNPedia

rs145955590

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145955590(A;A)
Make rs145955590(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position232534087
GeneCHRND
is asnp
is mentioned by
dbSNPrs145955590
ebirs145955590
HLIrs145955590
Exacrs145955590
Varsomers145955590
Maprs145955590
PheGenIrs145955590
hapmaprs145955590
1000 genomesrs145955590
hgdprs145955590
ensemblrs145955590
gopubmedrs145955590
geneviewrs145955590
scholarrs145955590
googlers145955590
pharmgkbrs145955590
gwascentralrs145955590
openSNPrs145955590
23andMers145955590
23andMe allrs145955590
SNP Nexus

SNPshotrs145955590
SNPdbers145955590
MSV3drs145955590
GWAS Ctlgrs145955590
Max Magnitude0
ClinVar
Risk rs145955590(A,C;A,C)
Alt rs145955590(A,C;A,C)
Reference rs145955590(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRND
CLNDBN Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000002.11:g.233398797G>A
CLNSRC Leiden Muscular Dystrophy pages (CHRND) OMIM Allelic Variant
CLNACC RCV000170317.3,