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: rs2002555
rs2002555
AMHR2
1.000 0.120 12 53423453 upstream gene variant A/G snv 0.16
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 1.000 2 2008 2013
dbSNP: rs1266802687
rs1266802687
AMHR2
1.000 0.160 12 53423974 missense variant G/A snv
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.010 1.000 1 2019 2019