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

rs587784404

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784404(A;A)
Make rs587784404(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53409491
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784404
ebirs587784404
HLIrs587784404
Exacrs587784404
Varsomers587784404
Maprs587784404
PheGenIrs587784404
hapmaprs587784404
1000 genomesrs587784404
hgdprs587784404
ensemblrs587784404
gopubmedrs587784404
geneviewrs587784404
scholarrs587784404
googlers587784404
pharmgkbrs587784404
gwascentralrs587784404
openSNPrs587784404
23andMers587784404
23andMe allrs587784404
SNP Nexus

SNPshotrs587784404
SNPdbers587784404
MSV3drs587784404
GWAS Ctlgrs587784404
Max Magnitude0
ClinVar
Risk rs587784404(A;A)
Alt rs587784404(A;A)
Reference rs587784404(C;C)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53436422G>T
CLNSRC
CLNACC RCV000147550.1,