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rs879253746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs879253746(-;T)
Make rs879253746(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position157200867
GeneARID1B
is asnp
is mentioned by
dbSNPrs879253746
dbSNP (classic)rs879253746
ClinGenrs879253746
ebirs879253746
HLIrs879253746
Exacrs879253746
Gnomadrs879253746
Varsomers879253746
LitVarrs879253746
Maprs879253746
PheGenIrs879253746
Biobankrs879253746
1000 genomesrs879253746
hgdprs879253746
ensemblrs879253746
geneviewrs879253746
scholarrs879253746
googlers879253746
pharmgkbrs879253746
gwascentralrs879253746
openSNPrs879253746
23andMers879253746
SNPshotrs879253746
SNPdbers879253746
MSV3drs879253746
GWAS Ctlgrs879253746
Max Magnitude0
ClinVar
Risk rs879253746(T;T)
Alt rs879253746(T;T)
Reference Rs879253746(-;-)
Significance Pathogenic
Disease Absent speech Blepharophimosis Intellectual disability Long eyelashes Thick lower lip vermilion Thin upper lip vermilion not provided
Variation info
Gene ARID1B
CLNDBN Absent speech Blepharophimosis Intellectual disability, moderate Long eyelashes Thick lower lip vermilion Thin upper lip vermilion not provided
Reversed 0
HGVS NC_000006.11:g.157522001dupT
CLNSRC
CLNACC RCV000234892.1, RCV000413328.1,