rs121908426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908426(C;C) |
Make rs121908426(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 5745321 |
Gene | EVC |
is a | snp |
is | mentioned by |
dbSNP | rs121908426 |
dbSNP (classic) | rs121908426 |
ClinGen | rs121908426 |
ebi | rs121908426 |
HLI | rs121908426 |
Exac | rs121908426 |
Gnomad | rs121908426 |
Varsome | rs121908426 |
LitVar | rs121908426 |
Map | rs121908426 |
PheGenI | rs121908426 |
Biobank | rs121908426 |
1000 genomes | rs121908426 |
hgdp | rs121908426 |
ensembl | rs121908426 |
geneview | rs121908426 |
scholar | rs121908426 |
rs121908426 | |
pharmgkb | rs121908426 |
gwascentral | rs121908426 |
openSNP | rs121908426 |
23andMe | rs121908426 |
SNPshot | rs121908426 |
SNPdbe | rs121908426 |
MSV3d | rs121908426 |
GWAS Ctlg | rs121908426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908426(C;C) |
Alt | rs121908426(C;C) |
Reference | Rs121908426(T;T) |
Significance | Pathogenic |
Disease | Curry-Hall syndrome Chondroectodermal dysplasia |
Variation | info |
Gene | EVC |
CLNDBN | Curry-Hall syndrome Chondroectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000004.11:g.5747048T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005671.7, RCV000005672.2, |