rs28928868
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28928868(G;T) |
Make rs28928868(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1806164 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs28928868 |
dbSNP (classic) | rs28928868 |
ClinGen | rs28928868 |
ebi | rs28928868 |
HLI | rs28928868 |
Exac | rs28928868 |
Gnomad | rs28928868 |
Varsome | rs28928868 |
LitVar | rs28928868 |
Map | rs28928868 |
PheGenI | rs28928868 |
Biobank | rs28928868 |
1000 genomes | rs28928868 |
hgdp | rs28928868 |
ensembl | rs28928868 |
geneview | rs28928868 |
scholar | rs28928868 |
rs28928868 | |
pharmgkb | rs28928868 |
gwascentral | rs28928868 |
openSNP | rs28928868 |
23andMe | rs28928868 |
SNPshot | rs28928868 |
SNPdbe | rs28928868 |
MSV3d | rs28928868 |
GWAS Ctlg | rs28928868 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928868(C;C) rs28928868(T;T) |
Alt | rs28928868(C;C) rs28928868(T;T) |
Reference | Rs28928868(G;G) |
Significance | Pathogenic |
Disease | Hypochondroplasia |
Variation | info |
Gene | FGFR3 |
CLNDBN | Hypochondroplasia |
Reversed | 0 |
HGVS | NC_000004.11:g.1807891G>C; NC_000004.11:g.1807891G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017756.29, RCV000017755.28, |