rs587776999
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776999(C;C) |
Make rs587776999(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 26501144 |
Gene | KCTD1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776999 |
dbSNP (classic) | rs587776999 |
ClinGen | rs587776999 |
ebi | rs587776999 |
HLI | rs587776999 |
Exac | rs587776999 |
Gnomad | rs587776999 |
Varsome | rs587776999 |
LitVar | rs587776999 |
Map | rs587776999 |
PheGenI | rs587776999 |
Biobank | rs587776999 |
1000 genomes | rs587776999 |
hgdp | rs587776999 |
ensembl | rs587776999 |
geneview | rs587776999 |
scholar | rs587776999 |
rs587776999 | |
pharmgkb | rs587776999 |
gwascentral | rs587776999 |
openSNP | rs587776999 |
23andMe | rs587776999 |
SNPshot | rs587776999 |
SNPdbe | rs587776999 |
MSV3d | rs587776999 |
GWAS Ctlg | rs587776999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776999(A;A) rs587776999(C;C) rs587776999(T;T) |
Alt | rs587776999(A;A) rs587776999(C;C) rs587776999(T;T) |
Reference | Rs587776999(G;G) |
Significance | Pathogenic |
Disease | Scalp ear nipple syndrome |
Variation | info |
Gene | KCTD1 |
CLNDBN | Scalp ear nipple syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.24081108G>A; NC_000018.9:g.24081108G>C; NC_000018.9:g.24081108G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000049294.4, RCV000049293.5, RCV000049295.4, |