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: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 2 2014 2017
dbSNP: rs10097946
rs10097946
1 8 36920273 intron variant C/A snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs10101752
rs10101752
1 8 37125160 intergenic variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs1050828
rs1050828
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs111722075
rs111722075
2 6 25373818 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs111991936
rs111991936
1 7 23289983 regulatory region variant G/A snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs113507773
rs113507773
2 6 26255511 upstream gene variant G/A snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs116009877
rs116009877
4 6 25715429 regulatory region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116112266
rs116112266
1 2 107482651 intron variant G/C snv 3.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs13191659
rs13191659
4 6 27033276 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs138584487
rs138584487
1 22 33416876 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs140911738
rs140911738
1 20 32849813 3 prime UTR variant G/C snv 9.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs141555380
rs141555380
1 X 154677735 3 prime UTR variant C/T snv 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs143130997
rs143130997
2 6 109780207 intron variant G/A snv 5.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs144453006
rs144453006
1 11 62887212 intron variant G/A snv 3.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs147477420
rs147477420
1 11 33988237 TF binding site variant G/A snv 3.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs150548770
rs150548770
2 5 55020802 intron variant T/C snv 5.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs17052130
rs17052130
1 X 155675419 intergenic variant T/C snv 4.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1799852
rs1799852
TF
5 3 133756878 synonymous variant C/T snv 0.13 0.11 0.700 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs181143083
rs181143083
2 6 157434218 intron variant T/A snv 7.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs184908836
rs184908836
1 3 82041833 intron variant A/G snv 3.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs202056061
rs202056061
2 6 25494109 intron variant AGTT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs2442120
rs2442120
2 5 118970884 intron variant A/C snv 0.98 0.700 1.000 1 2017 2017