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

rs797045069

From SNPedia

Orientationminus
Make rs797045069(-;-)
Make rs797045069(-;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53399604
GeneSMC1A
is asnp
is mentioned by
dbSNPrs797045069
ebirs797045069
HLIrs797045069
Exacrs797045069
Varsomers797045069
Maprs797045069
PheGenIrs797045069
hapmaprs797045069
1000 genomesrs797045069
hgdprs797045069
ensemblrs797045069
gopubmedrs797045069
geneviewrs797045069
scholarrs797045069
googlers797045069
pharmgkbrs797045069
gwascentralrs797045069
openSNPrs797045069
23andMers797045069
23andMe allrs797045069
SNP Nexus

SNPshotrs797045069
SNPdbers797045069
MSV3drs797045069
GWAS Ctlgrs797045069
Max Magnitude
ClinVar
Risk rs797045069(;)
Alt rs797045069(;)
Reference rs797045069(A;A)
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.53426526delT
CLNSRC Baylor College of Medicine
CLNACC RCV000191130.1,