rs606231298
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs606231298(-;-) |
Make rs606231298(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 153797780 |
Gene | SSR4 |
is a | snp |
is | mentioned by |
dbSNP | rs606231298 |
dbSNP (classic) | rs606231298 |
ClinGen | rs606231298 |
ebi | rs606231298 |
HLI | rs606231298 |
Exac | rs606231298 |
Gnomad | rs606231298 |
Varsome | rs606231298 |
LitVar | rs606231298 |
Map | rs606231298 |
PheGenI | rs606231298 |
Biobank | rs606231298 |
1000 genomes | rs606231298 |
hgdp | rs606231298 |
ensembl | rs606231298 |
geneview | rs606231298 |
scholar | rs606231298 |
rs606231298 | |
pharmgkb | rs606231298 |
gwascentral | rs606231298 |
openSNP | rs606231298 |
23andMe | rs606231298 |
SNPshot | rs606231298 |
SNPdbe | rs606231298 |
MSV3d | rs606231298 |
GWAS Ctlg | rs606231298 |
Merged from | Rs797045179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231298(-;-) |
Alt | rs606231298(-;-) |
Reference | Rs606231298(T;T) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1y |
Variation | info |
Gene | SSR4 |
CLNDBN | Congenital disorder of glycosylation type 1y |
Reversed | 0 |
HGVS | NC_000023.10:g.153063234delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191048.3, |