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

rs869312901

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312901(C;C)
Make rs869312901(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position2229115
GeneSKI
is asnp
is mentioned by
dbSNPrs869312901
ebirs869312901
HLIrs869312901
Exacrs869312901
Varsomers869312901
Maprs869312901
PheGenIrs869312901
hapmaprs869312901
1000 genomesrs869312901
hgdprs869312901
ensemblrs869312901
gopubmedrs869312901
geneviewrs869312901
scholarrs869312901
googlers869312901
pharmgkbrs869312901
gwascentralrs869312901
openSNPrs869312901
23andMers869312901
23andMe allrs869312901
SNP Nexus

SNPshotrs869312901
SNPdbers869312901
MSV3drs869312901
GWAS Ctlgrs869312901
Max Magnitude0
ClinVar
Risk rs869312901(C;C)
Alt rs869312901(C;C)
Reference rs869312901(G;G)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160554G>C
CLNSRC
CLNACC RCV000210472.1,