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: rs10917151
rs10917151
CDC42
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.700 1.000 2 2018 2019
dbSNP: rs12037376
rs12037376
WNT4
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs17361789
rs17361789
DNM3
2 1.000 1 172153461 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4335411
rs4335411
PGBD2
3 1.000 1 248897507 regulatory region variant G/A snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs7412010
rs7412010 		2 1.000 1 22109953 regulatory region variant G/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs754866097
rs754866097
BMP8B ; PPIE
1 1 39760432 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs78220092
rs78220092 		1 1 241385280 intergenic variant C/A snv 4.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs863224007
rs863224007
FH
4 0.882 0.320 1 241502490 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs121913121
rs121913121
FH
6 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2011 2017
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2014 2014
dbSNP: rs10929757
rs10929757
GREB1
2 1.000 2 11562535 missense variant A/C snv 0.54 0.44 0.700 1.000 1 2018 2018
dbSNP: rs148143917
rs148143917
GREB1
2 1.000 2 11524625 intron variant A/C snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs35417544
rs35417544
GREB1 ; MIR4429
2 1.000 2 11540277 intron variant C/T snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs3951242
rs3951242
SLC66A3
2 1.000 2 11166852 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs55819434
rs55819434
BABAM2
2 1.000 2 28110242 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs62115045
rs62115045
MIR3681HG
2 1.000 2 11961997 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2019 2019
dbSNP: rs35446936
rs35446936
ACTRT3
11 0.776 0.080 3 169768720 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs4684433
rs4684433
ITPR1
2 1.000 3 4677552 intron variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs479404
rs479404
NEK10
2 1.000 3 27321573 intron variant T/C snv 0.38 0.700 1.000 1 2018 2018