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rs387907142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907142(C;T)
Make rs387907142(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position156901502
GeneARID1B
is asnp
is mentioned by
dbSNPrs387907142
dbSNP (classic)rs387907142
ClinGenrs387907142
ebirs387907142
HLIrs387907142
Exacrs387907142
Gnomadrs387907142
Varsomers387907142
LitVarrs387907142
Maprs387907142
PheGenIrs387907142
Biobankrs387907142
1000 genomesrs387907142
hgdprs387907142
ensemblrs387907142
geneviewrs387907142
scholarrs387907142
googlers387907142
pharmgkbrs387907142
gwascentralrs387907142
openSNPrs387907142
23andMers387907142
SNPshotrs387907142
SNPdbers387907142
MSV3drs387907142
GWAS Ctlgrs387907142
Max Magnitude0
ClinVar
Risk rs387907142(T;T)
Alt rs387907142(T;T)
Reference Rs387907142(C;C)
Significance Pathogenic
Disease Coffin-Siris syndrome 1
Variation info
Gene ARID1B
CLNDBN Coffin-Siris syndrome 1
Reversed 0
HGVS NC_000006.11:g.157222636C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024212.3,