rs606231214
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAA;CAA) | 0 | common in clinvar |
Make rs606231214(-;-) |
Make rs606231214(-;CAA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 52492671 |
Gene | KRT6A, LOC107984511 |
is a | snp |
is | mentioned by |
dbSNP | rs606231214 |
dbSNP (classic) | rs606231214 |
ClinGen | rs606231214 |
ebi | rs606231214 |
HLI | rs606231214 |
Exac | rs606231214 |
Gnomad | rs606231214 |
Varsome | rs606231214 |
LitVar | rs606231214 |
Map | rs606231214 |
PheGenI | rs606231214 |
Biobank | rs606231214 |
1000 genomes | rs606231214 |
hgdp | rs606231214 |
ensembl | rs606231214 |
geneview | rs606231214 |
scholar | rs606231214 |
rs606231214 | |
pharmgkb | rs606231214 |
gwascentral | rs606231214 |
openSNP | rs606231214 |
23andMe | rs606231214 |
SNPshot | rs606231214 |
SNPdbe | rs606231214 |
MSV3d | rs606231214 |
GWAS Ctlg | rs606231214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231214(AAC;AAC) rs606231214(-;-) |
Alt | rs606231214(AAC;AAC) rs606231214(-;-) |
Reference | Rs606231214(CAA;CAA) |
Significance | Pathogenic |
Disease | PC-K6a not provided |
Variation | info |
Gene | KRT6A |
CLNDBN | PC-K6a not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.52886455_52886457delTTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015740.29, RCV000057012.3, |