Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2218868
rs2218868
0.925 0.080 11 58158505 intron variant C/T snv 0.52
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2018 2018
dbSNP: rs2223361
rs2223361
1.000 0.040 6 19790578 intron variant C/T snv 0.54
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2012 2012
dbSNP: rs2278868
rs2278868
0.925 0.080 17 48184809 missense variant C/T snv 4.0E-06; 0.63 0.55
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2018 2018
dbSNP: rs2300795
rs2300795
1.000 0.040 6 75115465 intron variant A/G snv 0.11
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs3820445
rs3820445
1.000 0.040 1 48758912 missense variant G/A;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs3920498
rs3920498
1.000 0.040 1 22166394 intergenic variant G/C snv 0.19
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs427244
rs427244
1.000 0.040 12 124120741 intron variant A/G snv 0.71
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs4654783
rs4654783
1.000 0.040 1 22113027 downstream gene variant T/C snv 0.70
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2013 2013
dbSNP: rs4762326
rs4762326
1.000 0.040 12 95275175 intron variant C/G;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs4966038
rs4966038
1.000 0.040 15 98903403 intron variant G/C snv 0.28
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs517875
rs517875
1.000 0.040 3 174633096 intron variant C/A;G snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs55938609
rs55938609
1.000 0.040 1 22143958 5 prime UTR variant G/C snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs60966186
rs60966186
1.000 0.040 8 6973682 upstream gene variant A/G snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs62355900
rs62355900
1.000 0.040 5 56756868 regulatory region variant T/C snv 0.15
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs62469231
rs62469231
1.000 0.040 7 114391119 intron variant G/A snv 1.1E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs6546324
rs6546324
1.000 0.040 2 67629358 intron variant A/C snv 0.71
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs6782972
rs6782972
0.925 0.080 3 24922859 intron variant A/G snv 0.31
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2018 2018
dbSNP: rs6908034
rs6908034
1.000 0.040 6 19773699 intron variant G/A;T snv 0.27
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs7041895
rs7041895
1.000 0.040 9 22162795 intergenic variant A/C snv 0.47
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs71415016
rs71415016
1.000 0.040 14 95977621 intergenic variant T/C snv 6.1E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs71575922
rs71575922
0.925 0.040 6 152232879 intron variant C/G snv 0.12
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs74485684
rs74485684
1.000 0.040 11 30220740 intron variant T/C snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs74781061
rs74781061
1.000 0.040 15 74595855 3 prime UTR variant A/G snv 0.31
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs75801644
rs75801644
1.000 0.040 7 23266522 missense variant G/A snv 1.7E-02 1.7E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017
dbSNP: rs760794
rs760794
1.000 0.040 6 19790329 intron variant C/G;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.700 1.000 1 2017 2017