rs74315397
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a Bardet-Biedl syndrome mutation |
(T;T) | 0 | common in clinvar |
Make rs74315397(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 10412723 |
Gene | MKKS |
is a | snp |
is | mentioned by |
dbSNP | rs74315397 |
dbSNP (classic) | rs74315397 |
ClinGen | rs74315397 |
ebi | rs74315397 |
HLI | rs74315397 |
Exac | rs74315397 |
Gnomad | rs74315397 |
Varsome | rs74315397 |
LitVar | rs74315397 |
Map | rs74315397 |
PheGenI | rs74315397 |
Biobank | rs74315397 |
1000 genomes | rs74315397 |
hgdp | rs74315397 |
ensembl | rs74315397 |
geneview | rs74315397 |
scholar | rs74315397 |
rs74315397 | |
pharmgkb | rs74315397 |
gwascentral | rs74315397 |
openSNP | rs74315397 |
23andMe | rs74315397 |
SNPshot | rs74315397 |
SNPdbe | rs74315397 |
MSV3d | rs74315397 |
GWAS Ctlg | rs74315397 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs74315397(A;A) rs74315397(C;C) |
Alt | rs74315397(A;A) rs74315397(C;C) |
Reference | Rs74315397(T;T) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 6 |
Variation | info |
Gene | MKKS |
CLNDBN | Bardet-Biedl syndrome 6 |
Reversed | 1 |
HGVS | NC_000020.10:g.10393371A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005637.3, |