Source: BEFREE ×
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: rs11649743
rs11649743
HNF1B ; LOC105371754
2 0.925 0.080 17 37714971 intron variant A/G snv 0.85 0.730 1.000 3 2011 2019
dbSNP: rs2551188
rs2551188
CYP1B1 ; CYP1B1-AS1
2 0.925 0.080 2 38075651 non coding transcript exon variant C/T snv 0.35 0.030 1.000 3 2008 2019
dbSNP: rs5945572
rs5945572 		2 0.882 0.160 X 51486831 downstream gene variant A/G snv 0.730 1.000 3 2008 2010
dbSNP: rs620861
rs620861
POU5F1B ; CASC8 ; PCAT1 ; CASC21
2 0.925 0.080 8 127323428 intron variant G/A snv 0.36 0.030 0.667 3 2009 2017
dbSNP: rs1058205
rs1058205
KLK3
2 0.925 0.080 19 50860142 3 prime UTR variant C/T snv 0.75 0.74 0.020 1.000 2 2017 2018
dbSNP: rs10948059
rs10948059
GNMT ; CNPY3-GNMT
2 0.925 0.080 6 42960723 upstream gene variant C/G;T snv 0.39 0.020 1.000 2 2014 2016
dbSNP: rs11781886
rs11781886
NKX3-1 ; LOC107986930
2 0.925 0.080 8 23682904 5 prime UTR variant C/T snv 0.72 0.72 0.020 1.000 2 2010 2014
dbSNP: rs11986220
rs11986220 		2 0.925 0.080 8 127519444 intergenic variant A/G;T snv 0.720 1.000 2 2009 2015
dbSNP: rs1353855643
rs1353855643
ELAC2
2 0.925 0.080 17 13000197 frameshift variant T/- del 4.0E-06 0.020 0.500 2 2005 2008
dbSNP: rs138983188
rs138983188
TP53
2 0.925 0.080 17 7674863 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2013 2013
dbSNP: rs1446725892
rs1446725892
ELAC2
2 0.925 0.080 17 13000197 missense variant T/C;G snv 4.0E-06; 8.0E-06 0.020 0.500 2 2005 2008
dbSNP: rs1465618
rs1465618
THADA
2 0.882 0.160 2 43326810 intron variant T/C snv 0.80 0.720 0.800 2 2009 2019
dbSNP: rs16902094
rs16902094
CASC8 ; PCAT1 ; CASC21
2 0.882 0.160 8 127308101 intron variant A/G snv 0.15 0.720 1.000 2 2009 2017
dbSNP: rs17884057
rs17884057
SOD1
2 0.925 0.080 21 31664502 intron variant AGA/- delins 0.13 0.020 1.000 2 2011 2013
dbSNP: rs200331695
rs200331695
EMSY
2 0.925 0.080 11 76463778 intron variant A/G snv 8.0E-04 4.7E-04 0.020 1.000 2 2015 2016
dbSNP: rs2171492
rs2171492
CPA4
2 0.925 0.080 7 130310900 missense variant G/T snv 0.35 0.33 0.020 1.000 2 2009 2012
dbSNP: rs3195676
rs3195676
AMACR ; C1QTNF3-AMACR
2 0.925 0.080 5 34007995 missense variant C/T snv 0.42 0.41 0.020 1.000 2 2007 2013
dbSNP: rs3760511
rs3760511
HNF1B
2 0.925 0.080 17 37746322 upstream gene variant G/A;T snv 0.020 1.000 2 2016 2018
dbSNP: rs45609334
rs45609334
HSD3B1
2 0.925 0.080 1 119514623 missense variant C/A snv 0.76 0.020 1.000 2 2002 2007
dbSNP: rs472402
rs472402
SRD5A1
2 0.925 0.080 5 6635478 intron variant G/C snv 0.53 0.020 1.000 2 2016 2019
dbSNP: rs4764695
rs4764695
HELLPAR ; LINC02456
2 0.925 0.080 12 102363335 non coding transcript exon variant A/G;T snv 0.020 1.000 2 2010 2014
dbSNP: rs4955720
rs4955720 		2 0.925 0.080 3 170310812 downstream gene variant A/C;T snv 0.020 1.000 2 2011 2015
dbSNP: rs4962416
rs4962416
CTBP2
2 0.882 0.160 10 125008303 intron variant T/C snv 0.23 0.720 1.000 2 2008 2018
dbSNP: rs531523727
rs531523727
ELAC2
2 0.925 0.080 17 12998442 missense variant C/T snv 1.6E-05 2.1E-05 0.020 0.500 2 2005 2008
dbSNP: rs546950
rs546950
PRKCI
2 0.925 0.080 3 170226312 intron variant C/T snv 0.36 0.020 1.000 2 2011 2015