rs756368560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs756368560(A;A) |
Make rs756368560(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 58216087 |
Gene | MKS1 |
is a | snp |
is | mentioned by |
dbSNP | rs756368560 |
dbSNP (classic) | rs756368560 |
ClinGen | rs756368560 |
ebi | rs756368560 |
HLI | rs756368560 |
Exac | rs756368560 |
Gnomad | rs756368560 |
Varsome | rs756368560 |
LitVar | rs756368560 |
Map | rs756368560 |
PheGenI | rs756368560 |
Biobank | rs756368560 |
1000 genomes | rs756368560 |
hgdp | rs756368560 |
ensembl | rs756368560 |
geneview | rs756368560 |
scholar | rs756368560 |
rs756368560 | |
pharmgkb | rs756368560 |
gwascentral | rs756368560 |
openSNP | rs756368560 |
23andMe | rs756368560 |
SNPshot | rs756368560 |
SNPdbe | rs756368560 |
MSV3d | rs756368560 |
GWAS Ctlg | rs756368560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756368560(A;A) rs756368560(T;T) |
Alt | rs756368560(A;A) rs756368560(T;T) |
Reference | Rs756368560(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | MKS1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.56293448C>T |
CLNSRC | |
CLNACC | RCV000171264.1, |