Source: BEFREE

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: rs11169953
rs11169953
ACVRL1
1.000 0.080 12 51910615 intron variant C/T snv 0.36
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.010 1.000 1 2016 2016
dbSNP: rs121909284
rs121909284
ACVRL1
0.882 0.160 12 51916219 missense variant G/A;C snv 8.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2019 2019
dbSNP: rs121909287
rs121909287
ACVRL1
0.882 0.160 12 51916218 missense variant C/T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2019 2019
dbSNP: rs139142865
rs139142865
ACVRL1
1.000 0.120 12 51920826 missense variant C/T snv 1.6E-03 2.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 1999 1999
dbSNP: rs2277382
rs2277382
ACVRL1
1.000 0.040 12 51912437 missense variant C/T snv 8.4E-02 7.7E-02
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.010 1.000 1 2012 2012
dbSNP: rs706816
rs706816
ACVRL1
1.000 0.080 12 51919180 missense variant A/G snv 0.26 0.31
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.010 1.000 1 2016 2016