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rs797044480

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044480(G;T)
Make rs797044480(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position232526549
GeneCHRND
is asnp
is mentioned by
dbSNPrs797044480
ebirs797044480
HLIrs797044480
Exacrs797044480
Varsomers797044480
Maprs797044480
PheGenIrs797044480
hapmaprs797044480
1000 genomesrs797044480
hgdprs797044480
ensemblrs797044480
gopubmedrs797044480
geneviewrs797044480
scholarrs797044480
googlers797044480
pharmgkbrs797044480
gwascentralrs797044480
openSNPrs797044480
23andMers797044480
23andMe allrs797044480
SNP Nexus

SNPshotrs797044480
SNPdbers797044480
MSV3drs797044480
GWAS Ctlgrs797044480
Max Magnitude0
ClinVar
Risk rs797044480(T;T)
Alt rs797044480(T;T)
Reference rs797044480(G;G)
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.233391259G>T
CLNSRC
CLNACC RCV000191950.1,