rs762515373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTCTT;TTCTT) | 0 | common in clinvar |
Make rs762515373(-;-) |
Make rs762515373(-;TTCTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 92297408 |
Gene | GLMN, RPAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs762515373 |
dbSNP (classic) | rs762515373 |
ClinGen | rs762515373 |
ebi | rs762515373 |
HLI | rs762515373 |
Exac | rs762515373 |
Gnomad | rs762515373 |
Varsome | rs762515373 |
LitVar | rs762515373 |
Map | rs762515373 |
PheGenI | rs762515373 |
Biobank | rs762515373 |
1000 genomes | rs762515373 |
hgdp | rs762515373 |
ensembl | rs762515373 |
geneview | rs762515373 |
scholar | rs762515373 |
rs762515373 | |
pharmgkb | rs762515373 |
gwascentral | rs762515373 |
openSNP | rs762515373 |
23andMe | rs762515373 |
SNPshot | rs762515373 |
SNPdbe | rs762515373 |
MSV3d | rs762515373 |
GWAS Ctlg | rs762515373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762515373(-;-) |
Alt | rs762515373(-;-) |
Reference | Rs762515373(TTCTT;TTCTT) |
Significance | Pathogenic |
Disease | Glomuvenous malformations |
Variation | info |
Gene | RPAP2 GLMN |
CLNDBN | Glomuvenous malformations |
Reversed | 0 |
HGVS | NC_000001.10:g.92762965_92762969delTTCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008249.3, |