rs121909645
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909645(A;A) |
Make rs121909645(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 38424696 |
Gene | FGFR1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909645 |
dbSNP (classic) | rs121909645 |
ClinGen | rs121909645 |
ebi | rs121909645 |
HLI | rs121909645 |
Exac | rs121909645 |
Gnomad | rs121909645 |
Varsome | rs121909645 |
LitVar | rs121909645 |
Map | rs121909645 |
PheGenI | rs121909645 |
Biobank | rs121909645 |
1000 genomes | rs121909645 |
hgdp | rs121909645 |
ensembl | rs121909645 |
geneview | rs121909645 |
scholar | rs121909645 |
rs121909645 | |
pharmgkb | rs121909645 |
gwascentral | rs121909645 |
openSNP | rs121909645 |
23andMe | rs121909645 |
SNPshot | rs121909645 |
SNPdbe | rs121909645 |
MSV3d | rs121909645 |
GWAS Ctlg | rs121909645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909645(A;A) rs121909645(C;C) |
Alt | rs121909645(A;A) rs121909645(C;C) |
Reference | Rs121909645(G;G) |
Significance | Other |
Disease | Lobar holoprosencephaly Kallmann syndrome 2 |
Variation | info |
Gene | FGFR1 |
CLNDBN | Lobar holoprosencephaly Kallmann syndrome 2 |
Reversed | 1 |
HGVS | NC_000008.10:g.38282214C>G; NC_000008.10:g.38282214C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000223933.1, RCV000030940.3, |