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rs387907140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907140(C;T)
Make rs387907140(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position157196221
GeneARID1B
is asnp
is mentioned by
dbSNPrs387907140
dbSNP (classic)rs387907140
ClinGenrs387907140
ebirs387907140
HLIrs387907140
Exacrs387907140
Gnomadrs387907140
Varsomers387907140
LitVarrs387907140
Maprs387907140
PheGenIrs387907140
Biobankrs387907140
1000 genomesrs387907140
hgdprs387907140
ensemblrs387907140
geneviewrs387907140
scholarrs387907140
googlers387907140
pharmgkbrs387907140
gwascentralrs387907140
openSNPrs387907140
23andMers387907140
SNPshotrs387907140
SNPdbers387907140
MSV3drs387907140
GWAS Ctlgrs387907140
Max Magnitude0
ClinVar
Risk rs387907140(T;T)
Alt rs387907140(T;T)
Reference Rs387907140(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.157517355C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024207.3,