rs121918375
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918375(G;T) |
Make rs121918375(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 81934670 |
Gene | PYCR1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918375 |
dbSNP (classic) | rs121918375 |
ClinGen | rs121918375 |
ebi | rs121918375 |
HLI | rs121918375 |
Exac | rs121918375 |
Gnomad | rs121918375 |
Varsome | rs121918375 |
LitVar | rs121918375 |
Map | rs121918375 |
PheGenI | rs121918375 |
Biobank | rs121918375 |
1000 genomes | rs121918375 |
hgdp | rs121918375 |
ensembl | rs121918375 |
geneview | rs121918375 |
scholar | rs121918375 |
rs121918375 | |
pharmgkb | rs121918375 |
gwascentral | rs121918375 |
openSNP | rs121918375 |
23andMe | rs121918375 |
SNPshot | rs121918375 |
SNPdbe | rs121918375 |
MSV3d | rs121918375 |
GWAS Ctlg | rs121918375 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918375(A;A) rs121918375(T;T) |
Alt | rs121918375(A;A) rs121918375(T;T) |
Reference | Rs121918375(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive cutis laxa type 2B not provided |
Variation | info |
Gene | PYCR1 |
CLNDBN | Autosomal recessive cutis laxa type 2B not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.79892546C>A; NC_000017.10:g.79892546C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000014079.25, RCV000059738.1, |
[PMID 19648921] Mutations in PYCR1 cause cutis laxa with progeroid features.