rs267606846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606846(C;T) |
Make rs267606846(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 228158536 |
Gene | GJC2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606846 |
dbSNP (classic) | rs267606846 |
ClinGen | rs267606846 |
ebi | rs267606846 |
HLI | rs267606846 |
Exac | rs267606846 |
Gnomad | rs267606846 |
Varsome | rs267606846 |
LitVar | rs267606846 |
Map | rs267606846 |
PheGenI | rs267606846 |
Biobank | rs267606846 |
1000 genomes | rs267606846 |
hgdp | rs267606846 |
ensembl | rs267606846 |
geneview | rs267606846 |
scholar | rs267606846 |
rs267606846 | |
pharmgkb | rs267606846 |
gwascentral | rs267606846 |
openSNP | rs267606846 |
23andMe | rs267606846 |
SNPshot | rs267606846 |
SNPdbe | rs267606846 |
MSV3d | rs267606846 |
GWAS Ctlg | rs267606846 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606846(T;T) |
Alt | rs267606846(T;T) |
Reference | Rs267606846(C;C) |
Significance | Pathogenic |
Disease | Lymphedema |
Variation | info |
Gene | GJC2 |
CLNDBN | Lymphedema, hereditary, IC |
Reversed | 0 |
HGVS | NC_000001.10:g.228346237C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002161.4, |