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: rs398123392
rs398123392
CYP21A2 ; NEU1
3 0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04 0.710 1.000 3 2000 2018
dbSNP: rs769765227
rs769765227
CYP21A2 ; NEU1
2 0.925 0.160 6 31860558 missense variant C/T snv 2.0E-05 7.0E-06 0.700 1.000 2 2000 2014
dbSNP: rs754405067
rs754405067
CYP21A2 ; NEU1
1 1.000 0.160 6 31862662 frameshift variant CA/- delins 0.700 0
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
3 0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010