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rs587784405

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784405(A;G)
Make rs587784405(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53409150
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784405
ebirs587784405
HLIrs587784405
Exacrs587784405
Varsomers587784405
Maprs587784405
PheGenIrs587784405
hapmaprs587784405
1000 genomesrs587784405
hgdprs587784405
ensemblrs587784405
gopubmedrs587784405
geneviewrs587784405
scholarrs587784405
googlers587784405
pharmgkbrs587784405
gwascentralrs587784405
openSNPrs587784405
23andMers587784405
23andMe allrs587784405
SNP Nexus

SNPshotrs587784405
SNPdbers587784405
MSV3drs587784405
GWAS Ctlgrs587784405
Max Magnitude0
ClinVar
Risk rs587784405(G;G)
Alt rs587784405(G;G)
Reference rs587784405(A;A)
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.53436081T>C
CLNSRC
CLNACC RCV000147551.1,