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

rs387907303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907303(A;A)
Make rs387907303(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position2229113
GeneSKI
is asnp
is mentioned by
dbSNPrs387907303
ebirs387907303
HLIrs387907303
Exacrs387907303
Varsomers387907303
Maprs387907303
PheGenIrs387907303
hapmaprs387907303
1000 genomesrs387907303
hgdprs387907303
ensemblrs387907303
gopubmedrs387907303
geneviewrs387907303
scholarrs387907303
googlers387907303
pharmgkbrs387907303
gwascentralrs387907303
openSNPrs387907303
23andMers387907303
23andMe allrs387907303
SNP Nexus

SNPshotrs387907303
SNPdbers387907303
MSV3drs387907303
GWAS Ctlgrs387907303
Max Magnitude0
ClinVar
Risk rs387907303(A;A)
Alt rs387907303(A;A)
Reference rs387907303(G;G)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160552G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030816.26,