rs879253746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879253746(-;T) |
Make rs879253746(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 157200867 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs879253746 |
dbSNP (classic) | rs879253746 |
ClinGen | rs879253746 |
ebi | rs879253746 |
HLI | rs879253746 |
Exac | rs879253746 |
Gnomad | rs879253746 |
Varsome | rs879253746 |
LitVar | rs879253746 |
Map | rs879253746 |
PheGenI | rs879253746 |
Biobank | rs879253746 |
1000 genomes | rs879253746 |
hgdp | rs879253746 |
ensembl | rs879253746 |
geneview | rs879253746 |
scholar | rs879253746 |
rs879253746 | |
pharmgkb | rs879253746 |
gwascentral | rs879253746 |
openSNP | rs879253746 |
23andMe | rs879253746 |
SNPshot | rs879253746 |
SNPdbe | rs879253746 |
MSV3d | rs879253746 |
GWAS Ctlg | rs879253746 |
Max Magnitude | 0 |
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, |