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rs587784421

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784421(C;T)
Make rs587784421(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53413300
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784421
ebirs587784421
HLIrs587784421
Exacrs587784421
Varsomers587784421
Maprs587784421
PheGenIrs587784421
hapmaprs587784421
1000 genomesrs587784421
hgdprs587784421
ensemblrs587784421
gopubmedrs587784421
geneviewrs587784421
scholarrs587784421
googlers587784421
pharmgkbrs587784421
gwascentralrs587784421
openSNPrs587784421
23andMers587784421
23andMe allrs587784421
SNP Nexus

SNPshotrs587784421
SNPdbers587784421
MSV3drs587784421
GWAS Ctlgrs587784421
Max Magnitude0
ClinVar
Risk rs587784421(T;T)
Alt rs587784421(T;T)
Reference rs587784421(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.53440250G>A
CLNSRC
CLNACC RCV000147570.1,