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rs587784418

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784418(A;G)
Make rs587784418(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53382537
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784418
ebirs587784418
HLIrs587784418
Exacrs587784418
Varsomers587784418
Maprs587784418
PheGenIrs587784418
hapmaprs587784418
1000 genomesrs587784418
hgdprs587784418
ensemblrs587784418
gopubmedrs587784418
geneviewrs587784418
scholarrs587784418
googlers587784418
pharmgkbrs587784418
gwascentralrs587784418
openSNPrs587784418
23andMers587784418
23andMe allrs587784418
SNP Nexus

SNPshotrs587784418
SNPdbers587784418
MSV3drs587784418
GWAS Ctlgrs587784418
Max Magnitude0
ClinVar
Risk rs587784418(G;G)
Alt rs587784418(G;G)
Reference rs587784418(A;A)
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.53409458T>C
CLNSRC
CLNACC RCV000147566.1,