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rs587784415

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784415(A;T)
Make rs587784415(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53383157
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784415
ebirs587784415
HLIrs587784415
Exacrs587784415
Varsomers587784415
Maprs587784415
PheGenIrs587784415
hapmaprs587784415
1000 genomesrs587784415
hgdprs587784415
ensemblrs587784415
gopubmedrs587784415
geneviewrs587784415
scholarrs587784415
googlers587784415
pharmgkbrs587784415
gwascentralrs587784415
openSNPrs587784415
23andMers587784415
23andMe allrs587784415
SNP Nexus

SNPshotrs587784415
SNPdbers587784415
MSV3drs587784415
GWAS Ctlgrs587784415
Max Magnitude0
ClinVar
Risk rs587784415(T;T)
Alt rs587784415(T;T)
Reference rs587784415(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.53410078T>A
CLNSRC
CLNACC RCV000147563.1,