rs28939672
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28939672(A;A) |
Make rs28939672(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 13288512 |
Gene | PHYH |
is a | snp |
is | mentioned by |
dbSNP | rs28939672 |
dbSNP (classic) | rs28939672 |
ClinGen | rs28939672 |
ebi | rs28939672 |
HLI | rs28939672 |
Exac | rs28939672 |
Gnomad | rs28939672 |
Varsome | rs28939672 |
LitVar | rs28939672 |
Map | rs28939672 |
PheGenI | rs28939672 |
Biobank | rs28939672 |
1000 genomes | rs28939672 |
hgdp | rs28939672 |
ensembl | rs28939672 |
geneview | rs28939672 |
scholar | rs28939672 |
rs28939672 | |
pharmgkb | rs28939672 |
gwascentral | rs28939672 |
openSNP | rs28939672 |
23andMe | rs28939672 |
SNPshot | rs28939672 |
SNPdbe | rs28939672 |
MSV3d | rs28939672 |
GWAS Ctlg | rs28939672 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939672(A;A) |
Alt | rs28939672(A;A) |
Reference | Rs28939672(C;C) |
Significance | Pathogenic |
Disease | Refsum disease |
Variation | info |
Gene | PHYH |
CLNDBN | Refsum disease, adult, 1 |
Reversed | 1 |
HGVS | NC_000010.10:g.13330512G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008024.4, |