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rs587784422

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784422(C;T)
Make rs587784422(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53413261
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784422
ebirs587784422
HLIrs587784422
Exacrs587784422
Varsomers587784422
Maprs587784422
PheGenIrs587784422
hapmaprs587784422
1000 genomesrs587784422
hgdprs587784422
ensemblrs587784422
gopubmedrs587784422
geneviewrs587784422
scholarrs587784422
googlers587784422
pharmgkbrs587784422
gwascentralrs587784422
openSNPrs587784422
23andMers587784422
23andMe allrs587784422
SNP Nexus

SNPshotrs587784422
SNPdbers587784422
MSV3drs587784422
GWAS Ctlgrs587784422
Max Magnitude0
ClinVar
Risk rs587784422(T;T)
Alt rs587784422(T;T)
Reference rs587784422(C;C)
Significance Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53440211G>A
CLNSRC
CLNACC RCV000147571.2,