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rs587784403

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784403(A;A)
Make rs587784403(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53411822
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784403
ebirs587784403
HLIrs587784403
Exacrs587784403
Varsomers587784403
Maprs587784403
PheGenIrs587784403
hapmaprs587784403
1000 genomesrs587784403
hgdprs587784403
ensemblrs587784403
gopubmedrs587784403
geneviewrs587784403
scholarrs587784403
googlers587784403
pharmgkbrs587784403
gwascentralrs587784403
openSNPrs587784403
23andMers587784403
23andMe allrs587784403
SNP Nexus

SNPshotrs587784403
SNPdbers587784403
MSV3drs587784403
GWAS Ctlgrs587784403
Max Magnitude0
ClinVar
Risk rs587784403(A;A)
Alt rs587784403(A;A)
Reference rs587784403(G;G)
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.53438772C>T
CLNSRC
CLNACC RCV000147548.1,