rs74315400
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315400(C;C) |
Make rs74315400(C;G) |
Reference | GRCh37 37.1/132 |
Chromosome | 20 |
Position | 10386112 |
Gene | MKKS |
is a | snp |
is | mentioned by |
dbSNP | rs74315400 |
dbSNP (classic) | rs74315400 |
ClinGen | rs74315400 |
ebi | rs74315400 |
HLI | rs74315400 |
Exac | rs74315400 |
Gnomad | rs74315400 |
Varsome | rs74315400 |
LitVar | rs74315400 |
Map | rs74315400 |
PheGenI | rs74315400 |
Biobank | rs74315400 |
1000 genomes | rs74315400 |
hgdp | rs74315400 |
ensembl | rs74315400 |
geneview | rs74315400 |
scholar | rs74315400 |
rs74315400 | |
pharmgkb | rs74315400 |
gwascentral | rs74315400 |
openSNP | rs74315400 |
23andMe | rs74315400 |
SNPshot | rs74315400 |
SNPdbe | rs74315400 |
MSV3d | rs74315400 |
GWAS Ctlg | rs74315400 |
Status | Deleted |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315400(C;C) |
Alt | rs74315400(C;C) |
Reference | Rs74315400(G;G) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 6 |
Variation | info |
Gene | MKKS |
CLNDBN | Bardet-Biedl syndrome 6 |
Reversed | 1 |
HGVS | NC_000020.10:g.10386112C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000025826.1, SCV000025826.1, |