rs121434567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434567(C;T) |
Make rs121434567(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 110004540 |
Gene | EGF |
is a | snp |
is | mentioned by |
dbSNP | rs121434567 |
dbSNP (classic) | rs121434567 |
ClinGen | rs121434567 |
ebi | rs121434567 |
HLI | rs121434567 |
Exac | rs121434567 |
Gnomad | rs121434567 |
Varsome | rs121434567 |
LitVar | rs121434567 |
Map | rs121434567 |
PheGenI | rs121434567 |
Biobank | rs121434567 |
1000 genomes | rs121434567 |
hgdp | rs121434567 |
ensembl | rs121434567 |
geneview | rs121434567 |
scholar | rs121434567 |
rs121434567 | |
pharmgkb | rs121434567 |
gwascentral | rs121434567 |
openSNP | rs121434567 |
23andMe | rs121434567 |
SNPshot | rs121434567 |
SNPdbe | rs121434567 |
MSV3d | rs121434567 |
GWAS Ctlg | rs121434567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434567(T;T) |
Alt | rs121434567(T;T) |
Reference | Rs121434567(C;C) |
Significance | Pathogenic |
Disease | Hypomagnesemia 4 |
Variation | info |
Gene | EGF |
CLNDBN | Hypomagnesemia 4, renal |
Reversed | 0 |
HGVS | NC_000004.11:g.110925696C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018089.27, |