rs118203932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203932(A;A) |
Make rs118203932(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 85480713 |
Gene | CA2 |
is a | snp |
is | mentioned by |
dbSNP | rs118203932 |
dbSNP (classic) | rs118203932 |
ClinGen | rs118203932 |
ebi | rs118203932 |
HLI | rs118203932 |
Exac | rs118203932 |
Gnomad | rs118203932 |
Varsome | rs118203932 |
LitVar | rs118203932 |
Map | rs118203932 |
PheGenI | rs118203932 |
Biobank | rs118203932 |
1000 genomes | rs118203932 |
hgdp | rs118203932 |
ensembl | rs118203932 |
geneview | rs118203932 |
scholar | rs118203932 |
rs118203932 | |
pharmgkb | rs118203932 |
gwascentral | rs118203932 |
openSNP | rs118203932 |
23andMe | rs118203932 |
SNPshot | rs118203932 |
SNPdbe | rs118203932 |
MSV3d | rs118203932 |
GWAS Ctlg | rs118203932 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203932(A;A) rs118203932(G;G) |
Alt | rs118203932(A;A) rs118203932(G;G) |
Reference | Rs118203932(C;C) |
Significance | Pathogenic |
Disease | CARBONIC ANHYDRASE II VARIANT |
Variation | info |
Gene | CA2 |
CLNDBN | CARBONIC ANHYDRASE II VARIANT |
Reversed | 0 |
HGVS | NC_000008.10:g.86392942C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000963.3, |