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

rs587784409

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784409(C;T)
Make rs587784409(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53405077
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784409
ebirs587784409
HLIrs587784409
Exacrs587784409
Varsomers587784409
Maprs587784409
PheGenIrs587784409
hapmaprs587784409
1000 genomesrs587784409
hgdprs587784409
ensemblrs587784409
gopubmedrs587784409
geneviewrs587784409
scholarrs587784409
googlers587784409
pharmgkbrs587784409
gwascentralrs587784409
openSNPrs587784409
23andMers587784409
23andMe allrs587784409
SNP Nexus

SNPshotrs587784409
SNPdbers587784409
MSV3drs587784409
GWAS Ctlgrs587784409
Max Magnitude0
ClinVar
Risk rs587784409(T;T)
Alt rs587784409(T;T)
Reference rs587784409(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.53432009G>A
CLNSRC
CLNACC RCV000147557.1,