rs9332736
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTGGACAGGGTCAGGAATCAGGAGTCTG;GTGGACAGGGTCAGGAATCAGGAGTCTG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGGTGGACAGGGTCAGGAATCAGGAGTC;TGGTGGACAGGGTCAGGAATCAGGAGTC) | 0 | common in clinvar |
Make rs9332736(-;-) |
Make rs9332736(-;GTGGACAGGGTCAGGAATCAGGAGTCTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 31934291 |
Gene | C2, C2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs9332736 |
dbSNP (classic) | rs9332736 |
ClinGen | rs9332736 |
ebi | rs9332736 |
HLI | rs9332736 |
Exac | rs9332736 |
Gnomad | rs9332736 |
Varsome | rs9332736 |
LitVar | rs9332736 |
Map | rs9332736 |
PheGenI | rs9332736 |
Biobank | rs9332736 |
1000 genomes | rs9332736 |
hgdp | rs9332736 |
ensembl | rs9332736 |
geneview | rs9332736 |
scholar | rs9332736 |
rs9332736 | |
pharmgkb | rs9332736 |
gwascentral | rs9332736 |
openSNP | rs9332736 |
23andMe | rs9332736 |
SNPshot | rs9332736 |
SNPdbe | rs9332736 |
MSV3d | rs9332736 |
GWAS Ctlg | rs9332736 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs9332736(-;-) rs9332736(CAGACTCCTGATTCCTGACCCTGTCCAC;CAGACTCCTGATTCCTGACCCTGTCCAC) Rs9332736(TGGTGGACAGGGTCAGGAATCAGGAGTC;TGGTGGACAGGGTCAGGAATCAGGAGTC) |
Alt | rs9332736(-;-) rs9332736(CAGACTCCTGATTCCTGACCCTGTCCAC;CAGACTCCTGATTCCTGACCCTGTCCAC) Rs9332736(TGGTGGACAGGGTCAGGAATCAGGAGTC;TGGTGGACAGGGTCAGGAATCAGGAGTC) |
Reference | Rs9332736(GTGGACAGGGTCAGGAATCAGGAGTCTG;GTGGACAGGGTCAGGAATCAGGAGTCTG) |
Significance | Probable-Pathogenic |
Disease | Complement component 2 deficiency |
Variation | info |
Gene | C2-AS1 C2 |
CLNDBN | Complement component 2 deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.31902068_31902095del28 |
CLNSRC | GTR |
CLNACC | RCV000169652.1, |