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rs387907304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907304(C;G)
Make rs387907304(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position2228860
GeneSKI
is asnp
is mentioned by
dbSNPrs387907304
ebirs387907304
HLIrs387907304
Exacrs387907304
Varsomers387907304
Maprs387907304
PheGenIrs387907304
hapmaprs387907304
1000 genomesrs387907304
hgdprs387907304
ensemblrs387907304
gopubmedrs387907304
geneviewrs387907304
scholarrs387907304
googlers387907304
pharmgkbrs387907304
gwascentralrs387907304
openSNPrs387907304
23andMers387907304
23andMe allrs387907304
SNP Nexus

SNPshotrs387907304
SNPdbers387907304
MSV3drs387907304
GWAS Ctlgrs387907304
Max Magnitude0
ClinVar
Risk rs387907304(G;G)
Alt rs387907304(G;G)
Reference rs387907304(C;C)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160299C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030817.24,