rs375398247
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs375398247(A;G) |
Make rs375398247(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133353951 |
Gene | SURF1 |
is a | snp |
is | mentioned by |
dbSNP | rs375398247 |
dbSNP (classic) | rs375398247 |
ClinGen | rs375398247 |
ebi | rs375398247 |
HLI | rs375398247 |
Exac | rs375398247 |
Gnomad | rs375398247 |
Varsome | rs375398247 |
LitVar | rs375398247 |
Map | rs375398247 |
PheGenI | rs375398247 |
Biobank | rs375398247 |
1000 genomes | rs375398247 |
hgdp | rs375398247 |
ensembl | rs375398247 |
geneview | rs375398247 |
scholar | rs375398247 |
rs375398247 | |
pharmgkb | rs375398247 |
gwascentral | rs375398247 |
openSNP | rs375398247 |
23andMe | rs375398247 |
SNPshot | rs375398247 |
SNPdbe | rs375398247 |
MSV3d | rs375398247 |
GWAS Ctlg | rs375398247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375398247(C;C) rs375398247(G;G) |
Alt | rs375398247(C;C) rs375398247(G;G) |
Reference | Rs375398247(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SURF1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.136220806A>C |
CLNSRC | |
CLNACC | RCV000198496.2, |