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rs879253745

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs879253745(-;-)
Make rs879253745(-;AA)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position157181041
GeneARID1B
is asnp
is mentioned by
dbSNPrs879253745
ebirs879253745
HLIrs879253745
Exacrs879253745
Varsomers879253745
Maprs879253745
PheGenIrs879253745
hapmaprs879253745
1000 genomesrs879253745
hgdprs879253745
ensemblrs879253745
gopubmedrs879253745
geneviewrs879253745
scholarrs879253745
googlers879253745
pharmgkbrs879253745
gwascentralrs879253745
openSNPrs879253745
23andMers879253745
23andMe allrs879253745
SNP Nexus

SNPshotrs879253745
SNPdbers879253745
MSV3drs879253745
GWAS Ctlgrs879253745
Max Magnitude0
ClinVar
Risk rs879253745(;)
Alt rs879253745(;)
Reference rs879253745(AA;AA)
Significance Pathogenic
Disease Absent speech Blepharophimosis Intellectual disability Long eyelashes Thick lower lip vermilion Thin upper lip vermilion
Variation info
Gene ARID1B
CLNDBN Absent speech Blepharophimosis Intellectual disability, moderate Long eyelashes Thick lower lip vermilion Thin upper lip vermilion
Reversed 0
HGVS NC_000006.11:g.157502175_157502176delAA
CLNSRC
CLNACC RCV000234906.1,