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rs869025525

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025525(A;A)
Make rs869025525(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position2229118
GeneSKI
is asnp
is mentioned by
dbSNPrs869025525
ebirs869025525
HLIrs869025525
Exacrs869025525
Varsomers869025525
Maprs869025525
PheGenIrs869025525
hapmaprs869025525
1000 genomesrs869025525
hgdprs869025525
ensemblrs869025525
gopubmedrs869025525
geneviewrs869025525
scholarrs869025525
googlers869025525
pharmgkbrs869025525
gwascentralrs869025525
openSNPrs869025525
23andMers869025525
23andMe allrs869025525
SNP Nexus

SNPshotrs869025525
SNPdbers869025525
MSV3drs869025525
GWAS Ctlgrs869025525
Max Magnitude0
ClinVar
Risk rs869025525(A;A)
Alt rs869025525(A;A)
Reference rs869025525(G;G)
Significance Probable-Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160557G>A
CLNSRC
CLNACC RCV000208203.1,