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rs387907305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907305(A;A)
Make rs387907305(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position2228867
GeneSKI
is asnp
is mentioned by
dbSNPrs387907305
ebirs387907305
HLIrs387907305
Exacrs387907305
Varsomers387907305
Maprs387907305
PheGenIrs387907305
hapmaprs387907305
1000 genomesrs387907305
hgdprs387907305
ensemblrs387907305
gopubmedrs387907305
geneviewrs387907305
scholarrs387907305
googlers387907305
pharmgkbrs387907305
gwascentralrs387907305
openSNPrs387907305
23andMers387907305
23andMe allrs387907305
SNP Nexus

SNPshotrs387907305
SNPdbers387907305
MSV3drs387907305
GWAS Ctlgrs387907305
Max Magnitude0
ClinVar
Risk rs387907305(A,T;A,T)
Alt rs387907305(A,T;A,T)
Reference rs387907305(G;G)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160306G>A; NC_000001.10:g.2160306G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030818.28, RCV000033005.27,