rs137853156
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137853156(A;C) |
Make rs137853156(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 10412542 |
Gene | MKKS |
is a | snp |
is | mentioned by |
dbSNP | rs137853156 |
dbSNP (classic) | rs137853156 |
ClinGen | rs137853156 |
ebi | rs137853156 |
HLI | rs137853156 |
Exac | rs137853156 |
Gnomad | rs137853156 |
Varsome | rs137853156 |
LitVar | rs137853156 |
Map | rs137853156 |
PheGenI | rs137853156 |
Biobank | rs137853156 |
1000 genomes | rs137853156 |
hgdp | rs137853156 |
ensembl | rs137853156 |
geneview | rs137853156 |
scholar | rs137853156 |
rs137853156 | |
pharmgkb | rs137853156 |
gwascentral | rs137853156 |
openSNP | rs137853156 |
23andMe | rs137853156 |
SNPshot | rs137853156 |
SNPdbe | rs137853156 |
MSV3d | rs137853156 |
GWAS Ctlg | rs137853156 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853156(C;C) |
Alt | rs137853156(C;C) |
Reference | Rs137853156(A;A) |
Significance | Other |
Disease | Bardet-Biedl syndrome 1 |
Variation | info |
Gene | MKKS |
CLNDBN | Bardet-Biedl syndrome 1, modifier of |
Reversed | 1 |
HGVS | NC_000020.10:g.10393190T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005645.3, |