Annotation Detail
Information
- Associated Genes
- HMGB1
- Associated Variants
-
CYP17A1 c.666+35T>C
(
ENST00000638272.1,
ENST00000369887.4,
ENST00000638971.1,
ENST00000638190.1,
ENST00000639393.1 )
CNNM2 c.*9241T>C ( ENST00000369878.9 )
MTHFR c.359+160T>C ( ENST00000376583.7, ENST00000423400.7, ENST00000376585.6, ENST00000641407.1, ENST00000376592.6, ENST00000376590.9 )
rs16998073
CYP17A1 c.666+35T>C ( ENST00000369887.4, ENST00000638190.1, ENST00000638272.1, ENST00000638971.1, ENST00000639393.1 )
CNNM2 c.*9241T>C ( ENST00000369878.9 )
MTHFR c.359+160T>C ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
rs16998073 - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-rs11191548, CYP17A1-rs1004467 and MTHFR-rs17367504, was significantly associated with increased SBP (1.16 mmHg/allele, P = 9.01E-5), DBP (0.51 mmHg/allele, P = 4.40E-4) and hypertension risk (OR = 1.22/allele, P = 2.74E-7).
- Pubmed
- 20852445
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2011
Drugs