rs387906640
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906640(A;A) |
Make rs387906640(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40819609 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs387906640 |
dbSNP (classic) | rs387906640 |
ClinGen | rs387906640 |
ebi | rs387906640 |
HLI | rs387906640 |
Exac | rs387906640 |
Gnomad | rs387906640 |
Varsome | rs387906640 |
LitVar | rs387906640 |
Map | rs387906640 |
PheGenI | rs387906640 |
Biobank | rs387906640 |
1000 genomes | rs387906640 |
hgdp | rs387906640 |
ensembl | rs387906640 |
geneview | rs387906640 |
scholar | rs387906640 |
rs387906640 | |
pharmgkb | rs387906640 |
gwascentral | rs387906640 |
openSNP | rs387906640 |
23andMe | rs387906640 |
SNPshot | rs387906640 |
SNPdbe | rs387906640 |
MSV3d | rs387906640 |
GWAS Ctlg | rs387906640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906640(A;A) |
Alt | rs387906640(A;A) |
Reference | Rs387906640(C;C) |
Significance | Pathogenic |
Disease | Bullous ichthyosiform erythroderma |
Variation | info |
Gene | KRT10 TMEM99 |
CLNDBN | Bullous ichthyosiform erythroderma |
Reversed | 1 |
HGVS | NC_000017.10:g.38975861G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022631.21, |