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rs587784406

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784406(C;C)
Make rs587784406(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53405650
GeneMIR6857, SMC1A
is asnp
is mentioned by
dbSNPrs587784406
ebirs587784406
HLIrs587784406
Exacrs587784406
Varsomers587784406
Maprs587784406
PheGenIrs587784406
hapmaprs587784406
1000 genomesrs587784406
hgdprs587784406
ensemblrs587784406
gopubmedrs587784406
geneviewrs587784406
scholarrs587784406
googlers587784406
pharmgkbrs587784406
gwascentralrs587784406
openSNPrs587784406
23andMers587784406
23andMe allrs587784406
SNP Nexus

SNPshotrs587784406
SNPdbers587784406
MSV3drs587784406
GWAS Ctlgrs587784406
Max Magnitude0
ClinVar
Risk rs587784406(C;C)
Alt rs587784406(C;C)
Reference rs587784406(T;T)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene MIR6857 SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53432582A>G
CLNSRC
CLNACC RCV000147554.1,