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rs587784416

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784416(A;A)
Make rs587784416(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53382645
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784416
ebirs587784416
HLIrs587784416
Exacrs587784416
Varsomers587784416
Maprs587784416
PheGenIrs587784416
hapmaprs587784416
1000 genomesrs587784416
hgdprs587784416
ensemblrs587784416
gopubmedrs587784416
geneviewrs587784416
scholarrs587784416
googlers587784416
pharmgkbrs587784416
gwascentralrs587784416
openSNPrs587784416
23andMers587784416
23andMe allrs587784416
SNP Nexus

SNPshotrs587784416
SNPdbers587784416
MSV3drs587784416
GWAS Ctlgrs587784416
Max Magnitude0
ClinVar
Risk rs587784416(A;A)
Alt rs587784416(A;A)
Reference rs587784416(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.53409566C>T
CLNSRC
CLNACC RCV000147564.1,