Have questions? Visit https://www.reddit.com/r/SNPedia

rs879253747

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253747(C;T)
Make rs879253747(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position157167101
GeneARID1B
is asnp
is mentioned by
dbSNPrs879253747
ebirs879253747
HLIrs879253747
Exacrs879253747
Varsomers879253747
Maprs879253747
PheGenIrs879253747
hapmaprs879253747
1000 genomesrs879253747
hgdprs879253747
ensemblrs879253747
gopubmedrs879253747
geneviewrs879253747
scholarrs879253747
googlers879253747
pharmgkbrs879253747
gwascentralrs879253747
openSNPrs879253747
23andMers879253747
23andMe allrs879253747
SNP Nexus

SNPshotrs879253747
SNPdbers879253747
MSV3drs879253747
GWAS Ctlgrs879253747
Max Magnitude0
ClinVar
Risk rs879253747(T;T)
Alt rs879253747(T;T)
Reference rs879253747(C;C)
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.157488235C>T
CLNSRC
CLNACC RCV000234911.1,