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rs397514589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514589(A;A)
Make rs397514589(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position2228870
GeneSKI
is asnp
is mentioned by
dbSNPrs397514589
ebirs397514589
HLIrs397514589
Exacrs397514589
Varsomers397514589
Maprs397514589
PheGenIrs397514589
hapmaprs397514589
1000 genomesrs397514589
hgdprs397514589
ensemblrs397514589
gopubmedrs397514589
geneviewrs397514589
scholarrs397514589
googlers397514589
pharmgkbrs397514589
gwascentralrs397514589
openSNPrs397514589
23andMers397514589
23andMe allrs397514589
SNP Nexus

SNPshotrs397514589
SNPdbers397514589
MSV3drs397514589
GWAS Ctlgrs397514589
Max Magnitude0
ClinVar
Risk rs397514589(A;A)
Alt rs397514589(A;A)
Reference rs397514589(C;C)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160309C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033007.22,