rs780705654
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs780705654(A;A) |
Make rs780705654(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 23167916 |
Gene | KLHL7 |
is a | snp |
is | mentioned by |
dbSNP | rs780705654 |
dbSNP (classic) | rs780705654 |
ClinGen | rs780705654 |
ebi | rs780705654 |
HLI | rs780705654 |
Exac | rs780705654 |
Gnomad | rs780705654 |
Varsome | rs780705654 |
LitVar | rs780705654 |
Map | rs780705654 |
PheGenI | rs780705654 |
Biobank | rs780705654 |
1000 genomes | rs780705654 |
hgdp | rs780705654 |
ensembl | rs780705654 |
geneview | rs780705654 |
scholar | rs780705654 |
rs780705654 | |
pharmgkb | rs780705654 |
gwascentral | rs780705654 |
openSNP | rs780705654 |
23andMe | rs780705654 |
SNPshot | rs780705654 |
SNPdbe | rs780705654 |
MSV3d | rs780705654 |
GWAS Ctlg | rs780705654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780705654(A;A) rs780705654(T;T) |
Alt | rs780705654(A;A) rs780705654(T;T) |
Reference | Rs780705654(C;C) |
Significance | Pathogenic |
Disease | Cold-induced sweating syndrome 3 Cold-induced sweating syndrome 1 |
Variation | info |
Gene | KLHL7 |
CLNDBN | Cold-induced sweating syndrome 3 Cold-induced sweating syndrome 1 |
Reversed | 0 |
HGVS | NC_000007.13:g.23207535C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239522.1, RCV000491153.1, |