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rs587784423

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784423(A;G)
Make rs587784423(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53413140
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784423
ebirs587784423
HLIrs587784423
Exacrs587784423
Varsomers587784423
Maprs587784423
PheGenIrs587784423
hapmaprs587784423
1000 genomesrs587784423
hgdprs587784423
ensemblrs587784423
gopubmedrs587784423
geneviewrs587784423
scholarrs587784423
googlers587784423
pharmgkbrs587784423
gwascentralrs587784423
openSNPrs587784423
23andMers587784423
23andMe allrs587784423
SNP Nexus

SNPshotrs587784423
SNPdbers587784423
MSV3drs587784423
GWAS Ctlgrs587784423
Max Magnitude0
ClinVar
Risk rs587784423(G;G)
Alt rs587784423(G;G)
Reference rs587784423(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.53440090T>C
CLNSRC
CLNACC RCV000147572.1,