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rs397514590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514590(C;T)
Make rs397514590(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position2228869
GeneSKI
is asnp
is mentioned by
dbSNPrs397514590
ebirs397514590
HLIrs397514590
Exacrs397514590
Varsomers397514590
Maprs397514590
PheGenIrs397514590
hapmaprs397514590
1000 genomesrs397514590
hgdprs397514590
ensemblrs397514590
gopubmedrs397514590
geneviewrs397514590
scholarrs397514590
googlers397514590
pharmgkbrs397514590
gwascentralrs397514590
openSNPrs397514590
23andMers397514590
23andMe allrs397514590
SNP Nexus

SNPshotrs397514590
SNPdbers397514590
MSV3drs397514590
GWAS Ctlgrs397514590
Max Magnitude0
ClinVar
Risk rs397514590(T;T)
Alt rs397514590(T;T)
Reference rs397514590(C;C)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160308C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033008.28,