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rs587784408

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784408(A;A)
Make rs587784408(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53405130
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784408
ebirs587784408
HLIrs587784408
Exacrs587784408
Varsomers587784408
Maprs587784408
PheGenIrs587784408
hapmaprs587784408
1000 genomesrs587784408
hgdprs587784408
ensemblrs587784408
gopubmedrs587784408
geneviewrs587784408
scholarrs587784408
googlers587784408
pharmgkbrs587784408
gwascentralrs587784408
openSNPrs587784408
23andMers587784408
23andMe allrs587784408
SNP Nexus

SNPshotrs587784408
SNPdbers587784408
MSV3drs587784408
GWAS Ctlgrs587784408
Max Magnitude0
ClinVar
Risk rs587784408(A;A)
Alt rs587784408(A;A)
Reference rs587784408(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.53432062C>T
CLNSRC
CLNACC RCV000147556.1,