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rs398122889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GACCGCTCC;GACCGCTCC) 0 common in clinvar
(TCCGACCGC;TCCGACCGC) 0 common in clinvar
Make rs398122889(-;-)
Make rs398122889(-;GACCGCTCC)
ReferenceGRCh38 38.1/141
Chromosome1
Position2229049
GeneSKI
is asnp
is mentioned by
dbSNPrs398122889
ebirs398122889
HLIrs398122889
Exacrs398122889
Varsomers398122889
Maprs398122889
PheGenIrs398122889
hapmaprs398122889
1000 genomesrs398122889
hgdprs398122889
ensemblrs398122889
gopubmedrs398122889
geneviewrs398122889
scholarrs398122889
googlers398122889
pharmgkbrs398122889
gwascentralrs398122889
openSNPrs398122889
23andMers398122889
23andMe allrs398122889
SNP Nexus

SNPshotrs398122889
SNPdbers398122889
MSV3drs398122889
GWAS Ctlgrs398122889
Max Magnitude0
ClinVar
Risk rs398122889(;)
Alt rs398122889(;)
Reference rs398122889(TCCGACCGC;TCCGACCGC)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160488_2160496delGACCGCTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000030821.23,