Source: ALL

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: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C0002170
Disease: Alopecia
Alopecia 		0.700 1.000 1 2017 2017
dbSNP: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 1.000 1 2018 2018
dbSNP: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.010 1.000 1 2014 2014