Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 1 2019 2019