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rs863225459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225459(-;GGCC)
Make rs863225459(GGCC;GGCC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53380685
GeneSMC1A
is asnp
is mentioned by
dbSNPrs863225459
dbSNP (old)rs863225459
ClinGenrs863225459
ebirs863225459
HLIrs863225459
Exacrs863225459
Gnomadrs863225459
Varsomers863225459
Maprs863225459
PheGenIrs863225459
Biobankrs863225459
1000 genomesrs863225459
hgdprs863225459
ensemblrs863225459
gopubmedrs863225459
geneviewrs863225459
scholarrs863225459
googlers863225459
pharmgkbrs863225459
gwascentralrs863225459
openSNPrs863225459
23andMers863225459
23andMe allrs863225459
SNP Nexus

SNPshotrs863225459
SNPdbers863225459
MSV3drs863225459
GWAS Ctlgrs863225459
Max Magnitude0
ClinVar
Risk rs863225459(GGCC;GGCC)
Alt rs863225459(GGCC;GGCC)
Reference Rs863225459(-;-)
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.53407607_53407610dupGGCC
CLNSRC
CLNACC RCV000202430.1,