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: rs149082963
rs149082963
AMH ; MIR4321
1.000 0.160 19 2249367 missense variant T/G snv 1.4E-03 1.7E-03
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 1.000 2 1994 1996
dbSNP: rs371874189
rs371874189
AMH ; MIR4321
1.000 0.160 19 2250424 missense variant A/G snv 3.6E-05 6.3E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 1.000 2 1994 1996
dbSNP: rs569914235
rs569914235
AMH ; MIR4321
1.000 0.160 19 2249699 missense variant C/T snv 5.9E-05 4.9E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 1.000 2 1994 1996
dbSNP: rs777003373
rs777003373
AMH ; MIR4321
1.000 0.160 19 2250676 missense variant C/T snv 1.5E-05 2.1E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 1.000 2 1994 1996
dbSNP: rs104894666
rs104894666
AMH ; MIR4321
1.000 0.160 19 2250667 stop gained C/G;T snv
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 0