Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs797045991(-;-)
Make rs797045991(-;AAG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53411871
GeneSMC1A
is asnp
is mentioned by
dbSNPrs797045991
dbSNP (old)rs797045991
ClinGenrs797045991
ebirs797045991
HLIrs797045991
Exacrs797045991
Gnomadrs797045991
Varsomers797045991
Maprs797045991
PheGenIrs797045991
Biobankrs797045991
1000 genomesrs797045991
hgdprs797045991
ensemblrs797045991
gopubmedrs797045991
geneviewrs797045991
scholarrs797045991
googlers797045991
pharmgkbrs797045991
gwascentralrs797045991
openSNPrs797045991
23andMers797045991
23andMe allrs797045991
SNP Nexus

SNPshotrs797045991
SNPdbers797045991
MSV3drs797045991
GWAS Ctlgrs797045991
Max Magnitude0
ClinVar
Risk rs797045991(-;-)
Alt rs797045991(-;-)
Reference Rs797045991(AAG;AAG)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53438821_53438823delCTT
CLNSRC
CLNACC RCV000195085.1,