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rs587784410

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784410(A;A)
Make rs587784410(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53403659
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784410
ebirs587784410
HLIrs587784410
Exacrs587784410
Varsomers587784410
Maprs587784410
PheGenIrs587784410
hapmaprs587784410
1000 genomesrs587784410
hgdprs587784410
ensemblrs587784410
gopubmedrs587784410
geneviewrs587784410
scholarrs587784410
googlers587784410
pharmgkbrs587784410
gwascentralrs587784410
openSNPrs587784410
23andMers587784410
23andMe allrs587784410
SNP Nexus

SNPshotrs587784410
SNPdbers587784410
MSV3drs587784410
GWAS Ctlgrs587784410
Max Magnitude0
ClinVar
Risk rs587784410(A;A)
Alt rs587784410(A;A)
Reference rs587784410(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.53430591A>T
CLNSRC
CLNACC RCV000147558.1,