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: rs266849
rs266849
LOC105372441
4 0.925 0.080 19 50845834 intron variant G/A snv 0.82 0.800 1.000 2 2010 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: rs10734875
rs10734875
ATF7IP
1 12 14389607 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10772782
rs10772782
ATF7IP
1 12 14439909 intron variant A/G snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs10855058
rs10855058
KLF8
1 X 55910389 intron variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs11055956
rs11055956
ATF7IP
1 12 14381492 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11055980
rs11055980
ATF7IP
3 1.000 0.040 12 14458588 intron variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs11263761
rs11263761
HNF1B
2 1.000 0.080 17 37737784 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs11651052
rs11651052
HNF1B
7 0.851 0.200 17 37742390 intron variant G/A snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs12285347
rs12285347
MMP7
1 11 102525876 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12409639
rs12409639
SLC45A3
1 1 205669094 intron variant G/A snv 8.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs12429206
rs12429206
DLEU1
1 13 50871978 intron variant A/G snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs1354774
rs1354774
KLKP1
3 0.925 0.080 19 50889862 intron variant A/G snv 0.50 0.800 1.000 1 2013 2013
dbSNP: rs1506684
rs1506684 		1 19 50868163 intron variant A/G snv 0.53 0.700 1.000 1 2010 2010
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: rs16980679
rs16980679
RAI2
1 X 17802225 intron variant G/A snv 6.0E-02 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: rs198956
rs198956
KLKP1
1 19 50887097 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs198957
rs198957
KLKP1
1 19 50886304 intron variant C/T snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs1991431
rs1991431
ZBTB38
4 3 141414608 intron variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs202346
rs202346
DLEU1
1 13 50513307 intron variant C/A snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs2153904
rs2153904
SLC45A3
1 1 205673662 intron variant T/G snv 0.73 0.700 1.000 1 2015 2015
dbSNP: rs2417349
rs2417349
ATF7IP
1 12 14428515 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2492906
rs2492906
ARMC4
1 10 27805490 intron variant C/G snv 0.63 0.700 1.000 1 2017 2017