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: rs12409639
rs12409639
SLC45A3
1 1 205669094 intron variant G/A snv 8.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs16856139
rs16856139
SLC45A3
2 1.000 0.040 1 205669336 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs2153904
rs2153904
SLC45A3
1 1 205673662 intron variant T/G snv 0.73 0.700 1.000 1 2015 2015
dbSNP: rs4951018
rs4951018
SLC45A3
1 1 205667206 intron variant A/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs6662386
rs6662386
PKN2-AS1
1 1 87724354 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6679073
rs6679073 		1 1 205787356 downstream gene variant C/A snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs72434280
rs72434280
SLC45A3
1 1 205663090 inframe deletion CGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGCGC/- delins 0.700 1.000 1 2018 2018
dbSNP: rs823123
rs823123 		1 1 205756218 intergenic variant C/T snv 0.86 0.700 1.000 1 2015 2015
dbSNP: rs2556375
rs2556375
BCL11A
1 2 60532612 intron variant G/C;T snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs2556378
rs2556378
BCL11A
3 1.000 0.040 2 60535367 3 prime UTR variant T/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs58235267
rs58235267
OTX1
1 2 63050708 intron variant C/G;T snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs1991431
rs1991431
ZBTB38
4 3 141414608 intron variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs10023685
rs10023685 		1 4 156613097 intergenic variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs56935123
rs56935123 		1 4 145953075 intergenic variant -/T;TT delins 0.700 1.000 1 2017 2017
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.700 1.000 1 2010 2010
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs37004
rs37004
LINC01511
1 5 1356569 intron variant C/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs381949
rs381949
CLPTM1L
3 1.000 0.040 5 1322353 intron variant G/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs6920449
rs6920449 		1 6 43742611 upstream gene variant T/C snv 0.86 0.700 1.000 1 2017 2017
dbSNP: rs10486567
rs10486567
JAZF1
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs13272392
rs13272392
LOC107986930
1 8 23670998 intergenic variant T/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs17464492
rs17464492
POU5F1B ; CASC8 ; PCAT1 ; CASC21
1 8 127330621 intron variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs4614003
rs4614003 		1 8 23609471 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017