Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs151340617
rs151340617
C2 ; CYP21A2 ; C2-AS1
1 1.000 6 31943254 missense variant G/A snv 8.1E-06 1.4E-05 0.700 1.000 2 1996 1998
dbSNP: rs28934590
rs28934590
C2 ; CYP21A2
1 1.000 6 31933876 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 1996 1998
dbSNP: rs760744400
rs760744400
C2 ; CYP21A2
1 1.000 6 31928867 missense variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 2 1996 1998
dbSNP: rs9332736
rs9332736
C2 ; CYP21A2 ; C2-AS1
1 1.000 6 31934289 splice donor variant GTGGACAGGGTCAGGAATCAGGAGTCTG/- delins 0.700 1.000 1 1992 1992