rs201118996
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201118996(A;A) |
Make rs201118996(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 30924226 |
Gene | GALNT14 |
is a | snp |
is | mentioned by |
dbSNP | rs201118996 |
dbSNP (classic) | rs201118996 |
ClinGen | rs201118996 |
ebi | rs201118996 |
HLI | rs201118996 |
Exac | rs201118996 |
Gnomad | rs201118996 |
Varsome | rs201118996 |
LitVar | rs201118996 |
Map | rs201118996 |
PheGenI | rs201118996 |
Biobank | rs201118996 |
1000 genomes | rs201118996 |
hgdp | rs201118996 |
ensembl | rs201118996 |
geneview | rs201118996 |
scholar | rs201118996 |
rs201118996 | |
pharmgkb | rs201118996 |
gwascentral | rs201118996 |
openSNP | rs201118996 |
23andMe | rs201118996 |
SNPshot | rs201118996 |
SNPdbe | rs201118996 |
MSV3d | rs201118996 |
GWAS Ctlg | rs201118996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201118996(A;A) |
Alt | rs201118996(A;A) |
Reference | Rs201118996(G;G) |
Significance | Probable-Pathogenic |
Disease | Non-immune hydrops fetalis |
Variation | info |
Gene | GALNT14 |
CLNDBN | Non-immune hydrops fetalis |
Reversed | 0 |
HGVS | NC_000002.11:g.31147092G>A |
CLNSRC | |
CLNACC | RCV000170583.1, |