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: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 40 1993 2014
dbSNP: rs121912435
rs121912435
2 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.810 1.000 27 1993 2012
dbSNP: rs121912439
rs121912439
4 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 24 1993 2012
dbSNP: rs121912458
rs121912458
1 1.000 0.080 21 31667260 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1169198442
rs1169198442
1 1.000 0.080 21 31659837 missense variant A/G;T snv 0.700 1.000 20 1993 2009
dbSNP: rs11556620
rs11556620
1 1.000 0.080 21 31667278 missense variant A/G;T snv 0.800 1.000 3 2005 2012
dbSNP: rs121912445
rs121912445
4 0.882 0.080 21 31667331 missense variant A/T snv 0.720 1.000 22 1993 2017
dbSNP: rs1804449
rs1804449
1 1.000 0.080 21 31668533 missense variant C/A;T snv 1.2E-04 0.700 1.000 20 1993 2009
dbSNP: rs121912432
rs121912432
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs986277034
rs986277034
1 1.000 0.080 21 31663881 missense variant C/G snv 0.700 0
dbSNP: rs121912440
rs121912440
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
dbSNP: rs1301635320
rs1301635320
1 1.000 0.080 21 31667364 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121912442
rs121912442
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 2012
dbSNP: rs1280042397
rs1280042397
1 1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1378590183
rs1378590183
1 1.000 0.080 21 31667335 missense variant C/T snv 4.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs121912434
rs121912434
2 0.925 0.080 21 31663842 missense variant G/A snv 0.800 1.000 32 1993 2017
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121912447
rs121912447
1 1.000 0.080 21 31668549 missense variant G/A snv 0.800 1.000 23 1993 2012
dbSNP: rs121912450
rs121912450
1 1.000 0.080 21 31659833 missense variant G/A snv 0.800 1.000 23 1993 2012
dbSNP: rs567511139
rs567511139
2 0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
dbSNP: rs1555836950
rs1555836950
1 1.000 0.080 21 31668556 missense variant G/A snv 0.700 1.000 3 2010 2014
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 30 1993 2013
dbSNP: rs121912451
rs121912451
2 0.925 0.080 21 31668517 missense variant G/A;C snv 4.0E-06 0.800 1.000 23 1993 2012