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: rs28937879
rs28937879
2 0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04 0.820 1.000 10 2002 2014
dbSNP: rs121917824
rs121917824
1 1.000 0.080 16 75479002 missense variant A/G snv 5.7E-05 1.4E-05 0.810 1.000 17 2000 2015
dbSNP: rs121917822
rs121917822
1 1.000 0.080 16 75479525 missense variant A/C snv 8.0E-06 2.8E-05 0.800 1.000 17 2000 2015
dbSNP: rs28937877
rs28937877
1 1.000 0.080 16 75479308 missense variant T/C snv 0.800 1.000 3 2000 2015
dbSNP: rs28937878
rs28937878
1 1.000 0.080 16 75479220 missense variant G/T snv 0.800 0
dbSNP: rs72547544
rs72547544
2 0.925 0.080 16 75479500 missense variant T/C snv 4.0E-06 1.4E-05 0.800 0
dbSNP: rs202175444
rs202175444
1 1.000 0.080 16 75479198 missense variant G/A snv 4.1E-06 0.710 1.000 17 2000 2015
dbSNP: rs376162109
rs376162109
1 1.000 0.080 16 75479272 missense variant G/C;T snv 1.6E-05; 3.6E-05 0.710 1.000 1 2011 2011
dbSNP: rs72547543
rs72547543
1 1.000 0.080 16 75479446 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs752785520
rs752785520
2 0.925 0.080 16 75479180 missense variant C/T snv 4.2E-06 0.710 1.000 1 2003 2003
dbSNP: rs142954809
rs142954809
1 1.000 0.080 16 75479374 missense variant A/C;G snv 1.2E-05 0.700 1.000 17 2000 2015
dbSNP: rs370335460
rs370335460
1 1.000 0.080 16 75479677 missense variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 17 2000 2015
dbSNP: rs68043642
rs68043642
1 1.000 0.080 16 75479764 missense variant A/C snv 0.700 1.000 17 2000 2015
dbSNP: rs759870075
rs759870075
1 1.000 0.080 16 75479218 missense variant G/C;T snv 8.3E-06 0.700 1.000 17 2000 2015
dbSNP: rs775742450
rs775742450
1 1.000 0.080 16 75479627 missense variant A/G snv 8.0E-06 0.700 1.000 17 2000 2015
dbSNP: rs886052321
rs886052321
1 1.000 0.080 16 75478937 stop gained G/A snv 1.6E-05 0.700 1.000 2 2009 2010
dbSNP: rs1158093021
rs1158093021
1 1.000 0.080 16 75479519 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs117435647
rs117435647
1 1.000 0.080 16 75479345 missense variant G/C;T snv 3.5E-02; 8.1E-06 0.700 0
dbSNP: rs1265310255
rs1265310255
1 1.000 0.080 16 75479466 missense variant G/T snv 8.0E-06 0.700 0
dbSNP: rs1384294258
rs1384294258
1 1.000 0.080 16 75478757 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs374493344
rs374493344
1 1.000 0.080 16 75479213 missense variant C/A;T snv 4.1E-06; 8.3E-06 0.700 0
dbSNP: rs377617168
rs377617168
1 1.000 0.080 16 75479615 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs377706989
rs377706989
1 1.000 0.080 16 75479215 missense variant C/T snv 8.3E-06 1.4E-05 0.700 0
dbSNP: rs72547538
rs72547538
1 1.000 0.080 16 75479009 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs72547539
rs72547539
1 1.000 0.080 16 75479026 missense variant T/C snv 7.4E-05 1.4E-05 0.700 0