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rs587784407

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784407(A;A)
Make rs587784407(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53405527
GeneMIR6857, SMC1A
is asnp
is mentioned by
dbSNPrs587784407
ebirs587784407
HLIrs587784407
Exacrs587784407
Varsomers587784407
Maprs587784407
PheGenIrs587784407
hapmaprs587784407
1000 genomesrs587784407
hgdprs587784407
ensemblrs587784407
gopubmedrs587784407
geneviewrs587784407
scholarrs587784407
googlers587784407
pharmgkbrs587784407
gwascentralrs587784407
openSNPrs587784407
23andMers587784407
23andMe allrs587784407
SNP Nexus

SNPshotrs587784407
SNPdbers587784407
MSV3drs587784407
GWAS Ctlgrs587784407
Max Magnitude0
ClinVar
Risk rs587784407(A;A)
Alt rs587784407(A;A)
Reference Rs587784407(G;G)
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.53432459C>T
CLNSRC
CLNACC RCV000147555.1,