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rs869312954

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312954(G;G)
Make rs869312954(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53380660
GeneSMC1A
is asnp
is mentioned by
dbSNPrs869312954
ebirs869312954
HLIrs869312954
Exacrs869312954
Varsomers869312954
Maprs869312954
PheGenIrs869312954
hapmaprs869312954
1000 genomesrs869312954
hgdprs869312954
ensemblrs869312954
gopubmedrs869312954
geneviewrs869312954
scholarrs869312954
googlers869312954
pharmgkbrs869312954
gwascentralrs869312954
openSNPrs869312954
23andMers869312954
23andMe allrs869312954
SNP Nexus

SNPshotrs869312954
SNPdbers869312954
MSV3drs869312954
GWAS Ctlgrs869312954
Max Magnitude0
ClinVar
Risk rs869312954(G;G)
Alt rs869312954(G;G)
Reference rs869312954(T;T)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene SMC1A
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000023.10:g.53407581A>C
CLNSRC
CLNACC RCV000210626.1,