rs758601634
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758601634(-;-) |
Make rs758601634(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 81935121 |
Gene | PYCR1 |
is a | snp |
is | mentioned by |
dbSNP | rs758601634 |
dbSNP (classic) | rs758601634 |
ClinGen | rs758601634 |
ebi | rs758601634 |
HLI | rs758601634 |
Exac | rs758601634 |
Gnomad | rs758601634 |
Varsome | rs758601634 |
LitVar | rs758601634 |
Map | rs758601634 |
PheGenI | rs758601634 |
Biobank | rs758601634 |
1000 genomes | rs758601634 |
hgdp | rs758601634 |
ensembl | rs758601634 |
geneview | rs758601634 |
scholar | rs758601634 |
rs758601634 | |
pharmgkb | rs758601634 |
gwascentral | rs758601634 |
openSNP | rs758601634 |
23andMe | rs758601634 |
SNPshot | rs758601634 |
SNPdbe | rs758601634 |
MSV3d | rs758601634 |
GWAS Ctlg | rs758601634 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758601634(-;-) |
Alt | rs758601634(-;-) |
Reference | Rs758601634(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive cutis laxa type 3B |
Variation | info |
Gene | PYCR1 |
CLNDBN | Autosomal recessive cutis laxa type 3B |
Reversed | 0 |
HGVS | NC_000017.10:g.79892997delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022743.28, |