rs797045179
From SNPedia
Merged into | rs606231298 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045179(-;-) |
Make rs797045179(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 153797779 |
Gene | SSR4 |
is a | snp |
is | mentioned by |
dbSNP | rs797045179 |
dbSNP (classic) | rs797045179 |
ClinGen | rs797045179 |
ebi | rs797045179 |
HLI | rs797045179 |
Exac | rs797045179 |
Gnomad | rs797045179 |
Varsome | rs797045179 |
LitVar | rs797045179 |
Map | rs797045179 |
PheGenI | rs797045179 |
Biobank | rs797045179 |
1000 genomes | rs797045179 |
hgdp | rs797045179 |
ensembl | rs797045179 |
geneview | rs797045179 |
scholar | rs797045179 |
rs797045179 | |
pharmgkb | rs797045179 |
gwascentral | rs797045179 |
openSNP | rs797045179 |
23andMe | rs797045179 |
SNPshot | rs797045179 |
SNPdbe | rs797045179 |
MSV3d | rs797045179 |
GWAS Ctlg | rs797045179 |
Status | Merged into rs606231298 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs797045179(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 | RCV000191048.2, |