rs104893961
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104893961(A;C) |
Make rs104893961(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 121446897 |
Gene | GJA1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893961 |
dbSNP (classic) | rs104893961 |
ClinGen | rs104893961 |
ebi | rs104893961 |
HLI | rs104893961 |
Exac | rs104893961 |
Gnomad | rs104893961 |
Varsome | rs104893961 |
LitVar | rs104893961 |
Map | rs104893961 |
PheGenI | rs104893961 |
Biobank | rs104893961 |
1000 genomes | rs104893961 |
hgdp | rs104893961 |
ensembl | rs104893961 |
geneview | rs104893961 |
scholar | rs104893961 |
rs104893961 | |
pharmgkb | rs104893961 |
gwascentral | rs104893961 |
openSNP | rs104893961 |
23andMe | rs104893961 |
SNPshot | rs104893961 |
SNPdbe | rs104893961 |
MSV3d | rs104893961 |
GWAS Ctlg | rs104893961 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893961(C;C) |
Alt | rs104893961(C;C) |
Reference | Rs104893961(A;A) |
Significance | Pathogenic |
Disease | Oculodentodigital dysplasia |
Variation | info |
Gene | GJA1 |
CLNDBN | Oculodentodigital dysplasia |
Reversed | 0 |
HGVS | NC_000006.11:g.121768043A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018503.27, |