rs149998588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149998588(C;T) |
Make rs149998588(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 52479759 |
Gene | EFHC1 |
is a | snp |
is | mentioned by |
dbSNP | rs149998588 |
dbSNP (classic) | rs149998588 |
ClinGen | rs149998588 |
ebi | rs149998588 |
HLI | rs149998588 |
Exac | rs149998588 |
Gnomad | rs149998588 |
Varsome | rs149998588 |
LitVar | rs149998588 |
Map | rs149998588 |
PheGenI | rs149998588 |
Biobank | rs149998588 |
1000 genomes | rs149998588 |
hgdp | rs149998588 |
ensembl | rs149998588 |
geneview | rs149998588 |
scholar | rs149998588 |
rs149998588 | |
pharmgkb | rs149998588 |
gwascentral | rs149998588 |
openSNP | rs149998588 |
23andMe | rs149998588 |
SNPshot | rs149998588 |
SNPdbe | rs149998588 |
MSV3d | rs149998588 |
GWAS Ctlg | rs149998588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149998588(T;T) |
Alt | rs149998588(T;T) |
Reference | Rs149998588(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | EFHC1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.52344557C>T |
CLNSRC | |
CLNACC | RCV000187372.1, |