rs786205123
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
(TA;TA) | 0 | common in clinvar |
Make rs786205123(-;-) |
Make rs786205123(-;AT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 40270084 |
Gene | ZMPSTE24 |
is a | snp |
is | mentioned by |
dbSNP | rs786205123 |
dbSNP (classic) | rs786205123 |
ClinGen | rs786205123 |
ebi | rs786205123 |
HLI | rs786205123 |
Exac | rs786205123 |
Gnomad | rs786205123 |
Varsome | rs786205123 |
LitVar | rs786205123 |
Map | rs786205123 |
PheGenI | rs786205123 |
Biobank | rs786205123 |
1000 genomes | rs786205123 |
hgdp | rs786205123 |
ensembl | rs786205123 |
geneview | rs786205123 |
scholar | rs786205123 |
rs786205123 | |
pharmgkb | rs786205123 |
gwascentral | rs786205123 |
openSNP | rs786205123 |
23andMe | rs786205123 |
SNPshot | rs786205123 |
SNPdbe | rs786205123 |
MSV3d | rs786205123 |
GWAS Ctlg | rs786205123 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205123(-;-) Rs786205123(TA;TA) |
Alt | rs786205123(-;-) Rs786205123(TA;TA) |
Reference | Rs786205123(AT;AT) |
Significance | Pathogenic |
Disease | Lethal tight skin contracture syndrome |
Variation | info |
Gene | ZMPSTE24 |
CLNDBN | Lethal tight skin contracture syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.40735756_40735757delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034314.4, |