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

rs587784419

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784419(C;C)
Make rs587784419(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53380681
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784419
ebirs587784419
HLIrs587784419
Exacrs587784419
Varsomers587784419
Maprs587784419
PheGenIrs587784419
hapmaprs587784419
1000 genomesrs587784419
hgdprs587784419
ensemblrs587784419
gopubmedrs587784419
geneviewrs587784419
scholarrs587784419
googlers587784419
pharmgkbrs587784419
gwascentralrs587784419
openSNPrs587784419
23andMers587784419
23andMe allrs587784419
SNP Nexus

SNPshotrs587784419
SNPdbers587784419
MSV3drs587784419
GWAS Ctlgrs587784419
Max Magnitude0
ClinVar
Risk rs587784419(C;C)
Alt rs587784419(C;C)
Reference rs587784419(T;T)
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.53407602A>G
CLNSRC
CLNACC RCV000147568.1,