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rs879253856

From SNPedia

Orientationplus
Geno Mag Summary
(CCG;CCG) 0 common in clinvar
Make rs879253856(CCG;TCCGCAGCCACTCC)
Make rs879253856(TCCGCAGCCACTCC;TCCGCAGCCACTCC)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position157110496
GeneARID1B
is asnp
is mentioned by
dbSNPrs879253856
ebirs879253856
HLIrs879253856
Exacrs879253856
Varsomers879253856
Maprs879253856
PheGenIrs879253856
hapmaprs879253856
1000 genomesrs879253856
hgdprs879253856
ensemblrs879253856
gopubmedrs879253856
geneviewrs879253856
scholarrs879253856
googlers879253856
pharmgkbrs879253856
gwascentralrs879253856
openSNPrs879253856
23andMers879253856
23andMe allrs879253856
SNP Nexus

SNPshotrs879253856
SNPdbers879253856
MSV3drs879253856
GWAS Ctlgrs879253856
Max Magnitude0
ClinVar
Risk rs879253856(TCCGCAGCCACTCC;TCCGCAGCCACTCC)
Alt rs879253856(TCCGCAGCCACTCC;TCCGCAGCCACTCC)
Reference rs879253856(CCG;CCG)
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.157431630_157431632delCCGinsTCCGCAGCCACTCC
CLNSRC
CLNACC RCV000234868.1,