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

rs387907306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907306(A;A)
Make rs387907306(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position2228866
GeneSKI
is asnp
is mentioned by
dbSNPrs387907306
ebirs387907306
HLIrs387907306
Exacrs387907306
Varsomers387907306
Maprs387907306
PheGenIrs387907306
hapmaprs387907306
1000 genomesrs387907306
hgdprs387907306
ensemblrs387907306
gopubmedrs387907306
geneviewrs387907306
scholarrs387907306
googlers387907306
pharmgkbrs387907306
gwascentralrs387907306
openSNPrs387907306
23andMers387907306
23andMe allrs387907306
SNP Nexus

SNPshotrs387907306
SNPdbers387907306
MSV3drs387907306
GWAS Ctlgrs387907306
Max Magnitude0
ClinVar
Risk rs387907306(A,T;A,T)
Alt rs387907306(A,T;A,T)
Reference rs387907306(G;G)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome not provided
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome not provided
Reversed 0
HGVS NC_000001.10:g.2160305G>A; NC_000001.10:g.2160305G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030819.28, RCV000200686.1, RCV000030820.27, RCV000197434.1,