rs28933371
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28933371(G;G) |
Make rs28933371(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 54727519 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs28933371 |
dbSNP (classic) | rs28933371 |
ClinGen | rs28933371 |
ebi | rs28933371 |
HLI | rs28933371 |
Exac | rs28933371 |
Gnomad | rs28933371 |
Varsome | rs28933371 |
LitVar | rs28933371 |
Map | rs28933371 |
PheGenI | rs28933371 |
Biobank | rs28933371 |
1000 genomes | rs28933371 |
hgdp | rs28933371 |
ensembl | rs28933371 |
geneview | rs28933371 |
scholar | rs28933371 |
rs28933371 | |
pharmgkb | rs28933371 |
gwascentral | rs28933371 |
openSNP | rs28933371 |
23andMe | rs28933371 |
SNPshot | rs28933371 |
SNPdbe | rs28933371 |
MSV3d | rs28933371 |
GWAS Ctlg | rs28933371 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933371(G;G) |
Alt | rs28933371(G;G) |
Reference | Rs28933371(T;T) |
Significance | Pathogenic |
Disease | Partial albinism |
Variation | info |
Gene | KIT |
CLNDBN | Partial albinism |
Reversed | 0 |
HGVS | NC_000004.11:g.55593685T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014878.25, |