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: rs104894515
rs104894515
2 1.000 0.120 16 88643474 missense variant G/T snv 0.710 1.000 2 1994 2010
dbSNP: rs151344497
rs151344497
2 1.000 0.080 X 37795999 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs151344498
rs151344498
2 1.000 0.080 X 37798972 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs387906808
rs387906808
2 1.000 22 36867434 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs869025585
rs869025585
1 22 36864943 frameshift variant -/AAGGAGGATC delins 0.700 1.000 1 2009 2009
dbSNP: rs4029402
rs4029402
2 1.000 0.120 7 74777267 frameshift variant GT/- delins 0.700 0
dbSNP: rs145360423
rs145360423
3 0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04 0.030 1.000 3 2018 2018
dbSNP: rs1049254
rs1049254
3 0.925 0.160 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65 0.010 1.000 1 2017 2017
dbSNP: rs1049255
rs1049255
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2017 2017
dbSNP: rs119103274
rs119103274
2 1.000 0.120 1 183574605 missense variant G/A snv 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs1221526082
rs1221526082
1 3 10032957 frameshift variant TCAG/- delins 8.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs137854595
rs137854595
2 1.000 0.120 X 37803886 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs137854596
rs137854596
2 1.000 0.120 X 37803890 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs137878529
rs137878529
1 1 183574507 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1428754151
rs1428754151
AR
1 X 67545583 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1489201208
rs1489201208
1 7 74785283 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs151344456
rs151344456
2 1.000 0.120 X 37783510 missense variant G/C snv 0.010 1.000 1 1995 1995
dbSNP: rs151344484
rs151344484
2 1.000 0.120 X 37803991 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs193922448
rs193922448
2 1.000 0.120 X 37793716 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs267606912
rs267606912
1 1 183574509 missense variant T/A snv 0.010 1.000 1 1997 1997
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs778501379
rs778501379
1 2 28589481 missense variant G/A;C;T snv 1.2E-05; 1.2E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs782047455
rs782047455
3 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011