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rs398122914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCCGACCGCTCC;TCCGACCGCTCC) 0 common in clinvar
Make rs398122914(-;-)
Make rs398122914(-;TCCGACCGCTCC)
ReferenceGRCh38 38.1/141
Chromosome1
Position2229046
GeneSKI
is asnp
is mentioned by
dbSNPrs398122914
ebirs398122914
HLIrs398122914
Exacrs398122914
Varsomers398122914
Maprs398122914
PheGenIrs398122914
hapmaprs398122914
1000 genomesrs398122914
hgdprs398122914
ensemblrs398122914
gopubmedrs398122914
geneviewrs398122914
scholarrs398122914
googlers398122914
pharmgkbrs398122914
gwascentralrs398122914
openSNPrs398122914
23andMers398122914
23andMe allrs398122914
SNP Nexus

SNPshotrs398122914
SNPdbers398122914
MSV3drs398122914
GWAS Ctlgrs398122914
Max Magnitude0
ClinVar
Risk rs398122914(;)
Alt rs398122914(;)
Reference rs398122914(TCCGACCGCTCC;TCCGACCGCTCC)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene SKI
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000001.10:g.2160485_2160496delTCCGACCGCTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033006.22,