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rs373747090

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs373747090(A;T)
Make rs373747090(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position232534290
GeneCHRND
is asnp
is mentioned by
dbSNPrs373747090
ebirs373747090
HLIrs373747090
Exacrs373747090
Varsomers373747090
Maprs373747090
PheGenIrs373747090
hapmaprs373747090
1000 genomesrs373747090
hgdprs373747090
ensemblrs373747090
gopubmedrs373747090
geneviewrs373747090
scholarrs373747090
googlers373747090
pharmgkbrs373747090
gwascentralrs373747090
openSNPrs373747090
23andMers373747090
23andMe allrs373747090
SNP Nexus

SNPshotrs373747090
SNPdbers373747090
MSV3drs373747090
GWAS Ctlgrs373747090
Max Magnitude0
ClinVar
Risk rs373747090(T;T)
Alt rs373747090(T;T)
Reference rs373747090(A;A)
Significance Pathogenic
Disease Congenital myasthenic syndrome 1B
Variation info
Gene CHRND
CLNDBN Congenital myasthenic syndrome 1B, fast-channel
Reversed 0
HGVS NC_000002.11:g.233399000A>G
CLNSRC
CLNACC RCV000191950.1,