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rs387906866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGA;CAGA) 0 common in clinvar
Make rs387906866(-;-)
Make rs387906866(-;CAGA)
ReferenceGRCh38 38.1/141
Chromosome2
Position9527799
GeneADAM17
is asnp
is mentioned by
dbSNPrs387906866
dbSNP (classic)rs387906866
ClinGenrs387906866
ebirs387906866
HLIrs387906866
Exacrs387906866
Gnomadrs387906866
Varsomers387906866
LitVarrs387906866
Maprs387906866
PheGenIrs387906866
Biobankrs387906866
1000 genomesrs387906866
hgdprs387906866
ensemblrs387906866
geneviewrs387906866
scholarrs387906866
googlers387906866
pharmgkbrs387906866
gwascentralrs387906866
openSNPrs387906866
23andMers387906866
SNPshotrs387906866
SNPdbers387906866
MSV3drs387906866
GWAS Ctlgrs387906866
Max Magnitude0
ClinVar
Risk rs387906866(-;-)
Alt rs387906866(-;-)
Reference Rs387906866(CAGA;CAGA)
Significance Pathogenic
Disease Inflammatory skin and bowel disease
Variation info
Gene ADAM17
CLNDBN Inflammatory skin and bowel disease, neonatal 1
Reversed 1
HGVS NC_000002.11:g.9667928_9667931delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023322.4,