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rs387907143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907143(A;T)
Make rs387907143(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position157206470
GeneARID1B
is asnp
is mentioned by
dbSNPrs387907143
dbSNP (classic)rs387907143
ClinGenrs387907143
ebirs387907143
HLIrs387907143
Exacrs387907143
Gnomadrs387907143
Varsomers387907143
LitVarrs387907143
Maprs387907143
PheGenIrs387907143
Biobankrs387907143
1000 genomesrs387907143
hgdprs387907143
ensemblrs387907143
geneviewrs387907143
scholarrs387907143
googlers387907143
pharmgkbrs387907143
gwascentralrs387907143
openSNPrs387907143
23andMers387907143
SNPshotrs387907143
SNPdbers387907143
MSV3drs387907143
GWAS Ctlgrs387907143
Max Magnitude0
ClinVar
Risk rs387907143(T;T)
Alt rs387907143(T;T)
Reference Rs387907143(A;A)
Significance Pathogenic
Disease Coffin-Siris syndrome 1
Variation info
Gene ARID1B
CLNDBN Coffin-Siris syndrome 1
Reversed 0
HGVS NC_000006.11:g.157527604A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024214.3,