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rs863225458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAG;TCAG) 0 common in clinvar
Make rs863225458(-;-)
Make rs863225458(-;TCAG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53396233
GeneSMC1A
is asnp
is mentioned by
dbSNPrs863225458
dbSNP (old)rs863225458
ClinGenrs863225458
ebirs863225458
HLIrs863225458
Exacrs863225458
Gnomadrs863225458
Varsomers863225458
Maprs863225458
PheGenIrs863225458
Biobankrs863225458
1000 genomesrs863225458
hgdprs863225458
ensemblrs863225458
gopubmedrs863225458
geneviewrs863225458
scholarrs863225458
googlers863225458
pharmgkbrs863225458
gwascentralrs863225458
openSNPrs863225458
23andMers863225458
23andMe allrs863225458
SNP Nexus

SNPshotrs863225458
SNPdbers863225458
MSV3drs863225458
GWAS Ctlgrs863225458
Max Magnitude0
ClinVar
Risk rs863225458(-;-)
Alt rs863225458(-;-)
Reference Rs863225458(TCAG;TCAG)
Significance Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome not provided
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome not provided
Reversed 1
HGVS NC_000023.10:g.53423153_53423156delCTGA
CLNSRC
CLNACC RCV000202429.1, RCV000394437.1,