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rs869312902

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312902(G;G)
Make rs869312902(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position2228828
GeneSKI
is asnp
is mentioned by
dbSNPrs869312902
ebirs869312902
HLIrs869312902
Exacrs869312902
Varsomers869312902
Maprs869312902
PheGenIrs869312902
hapmaprs869312902
1000 genomesrs869312902
hgdprs869312902
ensemblrs869312902
gopubmedrs869312902
geneviewrs869312902
scholarrs869312902
googlers869312902
pharmgkbrs869312902
gwascentralrs869312902
openSNPrs869312902
23andMers869312902
23andMe allrs869312902
SNP Nexus

SNPshotrs869312902
SNPdbers869312902
MSV3drs869312902
GWAS Ctlgrs869312902
Max Magnitude0
ClinVar
Risk rs869312902(G;G)
Alt rs869312902(G;G)
Reference rs869312902(T;T)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160267T>G
CLNSRC
CLNACC RCV000210450.1,