rs672601360
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs672601360(A;G) |
Make rs672601360(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 100993209 |
Gene | C10orf2, TWNK |
is a | snp |
is | mentioned by |
dbSNP | rs672601360 |
dbSNP (classic) | rs672601360 |
ClinGen | rs672601360 |
ebi | rs672601360 |
HLI | rs672601360 |
Exac | rs672601360 |
Gnomad | rs672601360 |
Varsome | rs672601360 |
LitVar | rs672601360 |
Map | rs672601360 |
PheGenI | rs672601360 |
Biobank | rs672601360 |
1000 genomes | rs672601360 |
hgdp | rs672601360 |
ensembl | rs672601360 |
geneview | rs672601360 |
scholar | rs672601360 |
rs672601360 | |
pharmgkb | rs672601360 |
gwascentral | rs672601360 |
openSNP | rs672601360 |
23andMe | rs672601360 |
SNPshot | rs672601360 |
SNPdbe | rs672601360 |
MSV3d | rs672601360 |
GWAS Ctlg | rs672601360 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601360(G;G) |
Alt | rs672601360(G;G) |
Reference | Rs672601360(A;A) |
Significance | Pathogenic |
Disease | Perrault syndrome 5 |
Variation | info |
Gene | C10orf2 |
CLNDBN | Perrault syndrome 5 |
Reversed | 0 |
HGVS | NC_000010.10:g.102752966A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149471.6, |