rs267606985
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267606985(C;C) |
Make rs267606985(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 27963693 |
Gene | PTHLH |
is a | snp |
is | mentioned by |
dbSNP | rs267606985 |
dbSNP (classic) | rs267606985 |
ClinGen | rs267606985 |
ebi | rs267606985 |
HLI | rs267606985 |
Exac | rs267606985 |
Gnomad | rs267606985 |
Varsome | rs267606985 |
LitVar | rs267606985 |
Map | rs267606985 |
PheGenI | rs267606985 |
Biobank | rs267606985 |
1000 genomes | rs267606985 |
hgdp | rs267606985 |
ensembl | rs267606985 |
geneview | rs267606985 |
scholar | rs267606985 |
rs267606985 | |
pharmgkb | rs267606985 |
gwascentral | rs267606985 |
openSNP | rs267606985 |
23andMe | rs267606985 |
SNPshot | rs267606985 |
SNPdbe | rs267606985 |
MSV3d | rs267606985 |
GWAS Ctlg | rs267606985 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606985(C;C) |
Alt | rs267606985(C;C) |
Reference | Rs267606985(T;T) |
Significance | Pathogenic |
Disease | Brachydactyly type E2 |
Variation | info |
Gene | PTHLH |
CLNDBN | Brachydactyly type E2 |
Reversed | 1 |
HGVS | NC_000012.11:g.28116626A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014745.19, |