rs28931600
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28931600(A;A) |
Make rs28931600(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 121447274 |
Gene | GJA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28931600 |
dbSNP (classic) | rs28931600 |
ClinGen | rs28931600 |
ebi | rs28931600 |
HLI | rs28931600 |
Exac | rs28931600 |
Gnomad | rs28931600 |
Varsome | rs28931600 |
LitVar | rs28931600 |
Map | rs28931600 |
PheGenI | rs28931600 |
Biobank | rs28931600 |
1000 genomes | rs28931600 |
hgdp | rs28931600 |
ensembl | rs28931600 |
geneview | rs28931600 |
scholar | rs28931600 |
rs28931600 | |
pharmgkb | rs28931600 |
gwascentral | rs28931600 |
openSNP | rs28931600 |
23andMe | rs28931600 |
SNPshot | rs28931600 |
SNPdbe | rs28931600 |
MSV3d | rs28931600 |
GWAS Ctlg | rs28931600 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28931600(A;A) |
Alt | rs28931600(A;A) |
Reference | Rs28931600(G;G) |
Significance | Pathogenic |
Disease | Syndactyly type 3 |
Variation | info |
Gene | GJA1 |
CLNDBN | Syndactyly type 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.121768420G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018508.29, |