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rs587784420

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784420(A;A)
Make rs587784420(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53413426
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784420
ebirs587784420
HLIrs587784420
Exacrs587784420
Varsomers587784420
Maprs587784420
PheGenIrs587784420
hapmaprs587784420
1000 genomesrs587784420
hgdprs587784420
ensemblrs587784420
gopubmedrs587784420
geneviewrs587784420
scholarrs587784420
googlers587784420
pharmgkbrs587784420
gwascentralrs587784420
openSNPrs587784420
23andMers587784420
23andMe allrs587784420
SNP Nexus

SNPshotrs587784420
SNPdbers587784420
MSV3drs587784420
GWAS Ctlgrs587784420
Max Magnitude0
ClinVar
Risk rs587784420(A;A)
Alt rs587784420(A;A)
Reference rs587784420(G;G)
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.53440376C>T
CLNSRC
CLNACC RCV000147569.1,