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rs587784412

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784412(C;T)
Make rs587784412(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53403618
GeneSMC1A
is asnp
is mentioned by
dbSNPrs587784412
ebirs587784412
HLIrs587784412
Exacrs587784412
Varsomers587784412
Maprs587784412
PheGenIrs587784412
hapmaprs587784412
1000 genomesrs587784412
hgdprs587784412
ensemblrs587784412
gopubmedrs587784412
geneviewrs587784412
scholarrs587784412
googlers587784412
pharmgkbrs587784412
gwascentralrs587784412
openSNPrs587784412
23andMers587784412
23andMe allrs587784412
SNP Nexus

SNPshotrs587784412
SNPdbers587784412
MSV3drs587784412
GWAS Ctlgrs587784412
Max Magnitude0
ClinVar
Risk rs587784412(T;T)
Alt rs587784412(T;T)
Reference rs587784412(C;C)
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.53430550G>A
CLNSRC
CLNACC RCV000147560.1,