rs28928895
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(A;T) | 3 | heterozygote for pachyonychia congenita Type I mutation |
(T;T) | 0 | normal |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41612306 |
Gene | KRT16 |
is a | snp |
is | mentioned by |
dbSNP | rs28928895 |
dbSNP (classic) | rs28928895 |
ClinGen | rs28928895 |
ebi | rs28928895 |
HLI | rs28928895 |
Exac | rs28928895 |
Gnomad | rs28928895 |
Varsome | rs28928895 |
LitVar | rs28928895 |
Map | rs28928895 |
PheGenI | rs28928895 |
Biobank | rs28928895 |
1000 genomes | rs28928895 |
hgdp | rs28928895 |
ensembl | rs28928895 |
geneview | rs28928895 |
scholar | rs28928895 |
rs28928895 | |
pharmgkb | rs28928895 |
gwascentral | rs28928895 |
openSNP | rs28928895 |
23andMe | rs28928895 |
SNPshot | rs28928895 |
SNPdbe | rs28928895 |
MSV3d | rs28928895 |
GWAS Ctlg | rs28928895 |
Max Magnitude | 3 |
This SNP has been found in patients with pachyonychia congenita Type I, and the risk allele appears to be a causative mutation for this (dominant) disorder.
See also: OMIM 148067.0010
ClinVar | |
---|---|
Risk | Rs28928895(A;A) rs28928895(C;C) |
Alt | Rs28928895(A;A) rs28928895(C;C) |
Reference | Rs28928895(T;T) |
Significance | Pathogenic |
Disease | not provided Pachyonychia congenita |
Variation | info |
Gene | KRT16 |
CLNDBN | not provided Pachyonychia congenita, type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.39768558A>G; NC_000017.10:g.39768558A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000255090.1, RCV000015713.23, RCV000057040.1, |