Source: ALL
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: rs10257273
rs10257273
TMEM225B
1 7 99590966 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10278040
rs10278040 		2 7 99543750 downstream gene variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs111390579
rs111390579
ZNF655 ; TMEM225B
1 7 99575571 3 prime UTR variant CACACACA/-;CACA;CACACA;CACACACACA;CACACACACACA;CACACACACACACA delins 0.700 1.000 1 2019 2019
dbSNP: rs111730697
rs111730697 		1 13 21743520 intergenic variant TCCATCCATCCA/-;TCCA;TCCATCCA;TCCATCCATCCATCCA;TCCATCCATCCATCCATCCA;TCCATCCATCCATCCATCCATCCA;TCCATCCATCCATCCATCCATCCATCCA;TCCATCCATCCATCCATCCATCCATCCATCCA delins 0.700 1.000 1 2019 2019
dbSNP: rs117430166
rs117430166
CASTOR3 ; LOC107986828
1 7 100229908 intron variant C/T snv 3.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs13222543
rs13222543
ZCWPW1
2 7 100417834 intron variant C/T snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs143524414
rs143524414 		1 7 99367992 intron variant G/A snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs148982377
rs148982377
ZNF394 ; ZNF789
4 7 99477415 intron variant T/C snv 3.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs150507409
rs150507409
ARPC1B
1 7 99386080 intron variant G/A snv 3.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs200943612
rs200943612 		1 19 47909197 intergenic variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs2431830
rs2431830
SULT2A1
1 19 47876949 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs28620926
rs28620926
SRP14-AS1
1 15 40064970 intron variant A/G snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs2911280
rs2911280
CMIP
2 1.000 0.080 16 81557708 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs296360
rs296360
SULT2A1
1 19 47885401 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs34022779
rs34022779
CPSF4 ; PTCD1 ; ATP5MF-PTCD1
1 7 99441691 intron variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019
dbSNP: rs34670419
rs34670419
ZKSCAN5
7 1.000 0.080 7 99533211 3 prime UTR variant G/A;T snv 7.7E-06; 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs36139342
rs36139342
MCM9
1 6 118883460 intron variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs57159061
rs57159061
CMIP
1 16 81557357 intron variant T/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs5935876
rs5935876
PUDP
1 X 7004037 intron variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs615567
rs615567 		1 13 21745070 intergenic variant A/T snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs67836407
rs67836407 		1 13 21717951 TF binding site variant AGGTT/- delins 0.58 0.700 1.000 1 2019 2019
dbSNP: rs77356530
rs77356530
PTCD1 ; ATP5MF-PTCD1
1 7 99421942 intron variant G/A snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs77533229
rs77533229
THADA
1 2 43252499 intron variant G/A snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs78900934
rs78900934 		2 1.000 0.080 1 101272565 upstream gene variant C/A snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs80193476
rs80193476
CYP3A43
1 7 99835967 intron variant A/G;T snv 2.8E-02 0.700 1.000 1 2019 2019