rs397507182
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAAT;GTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAAT) | 0 | common in clinvar |
(TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA;TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) | 0 | common/normal |
(TTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG;TTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) | 0 | common in clinvar |
Make rs397507182(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094314 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507182 |
dbSNP (classic) | rs397507182 |
ClinGen | rs397507182 |
ebi | rs397507182 |
HLI | rs397507182 |
Exac | rs397507182 |
Gnomad | rs397507182 |
Varsome | rs397507182 |
LitVar | rs397507182 |
Map | rs397507182 |
PheGenI | rs397507182 |
Biobank | rs397507182 |
1000 genomes | rs397507182 |
hgdp | rs397507182 |
ensembl | rs397507182 |
geneview | rs397507182 |
scholar | rs397507182 |
rs397507182 | |
pharmgkb | rs397507182 |
gwascentral | rs397507182 |
openSNP | rs397507182 |
23andMe | rs397507182 |
SNPshot | rs397507182 |
SNPdbe | rs397507182 |
MSV3d | rs397507182 |
GWAS Ctlg | rs397507182 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507182(-;-) |
Alt | rs397507182(-;-) |
Reference | Rs397507182(TTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG;TTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246331_41246373del43 |
CLNSRC | ClinVar |
CLNACC | RCV000030977.3, |