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: rs6465122
rs6465122
ZP3 ; SSC4D
1 1.000 0.040 7 76411547 intron variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11865038
rs11865038
ZNF646 ; PRSS53
1 1.000 0.040 16 31083850 3 prime UTR variant C/T snv 0.42 0.46 0.800 1.000 1 2012 2012
dbSNP: rs2275294
rs2275294
ZNF512B
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.020 0.500 2 2015 2016
dbSNP: rs17767294
rs17767294
ZNF165 ; ZSCAN16-AS1
1 1.000 0.040 6 28086420 intron variant A/G snv 8.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2012 2012
dbSNP: rs415430
rs415430
WNT3 ; LRRC37A2
3 1.000 0.040 17 46781778 intron variant C/T snv 0.84 0.800 1.000 2 2011 2011
dbSNP: rs199498
rs199498
WNT3 ; LRRC37A2
2 0.925 0.120 17 46788237 intron variant T/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs199515
rs199515
WNT3 ; LRRC37A2
3 0.925 0.120 17 46779275 intron variant G/C snv 0.84 0.800 1.000 1 2012 2012
dbSNP: rs2074404
rs2074404
WNT3 ; LRRC37A2
4 0.925 0.120 17 46788073 intron variant T/G snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs188286943
rs188286943
VPS35
9 0.776 0.160 16 46662452 missense variant C/T snv 0.100 0.957 23 2012 2019
dbSNP: rs184277092
rs184277092
VPS35
1 1.000 0.040 16 46669007 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs369100678
rs369100678
VPS13C
2 0.925 0.040 15 61958608 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869312809
rs869312809
VPS13C
2 0.925 0.040 15 61915631 splice donor variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312810
rs869312810
VPS13C
2 0.925 0.040 15 61882652 stop gained C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs869312811
rs869312811
VPS13C
2 0.925 0.040 15 61947292 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879253853
rs879253853
VPS13C
1 1.000 0.040 15 62013057 frameshift variant -/TCTG ins 0.700 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2016 2016
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 0.667 3 2017 2020
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 1.000 3 2013 2017
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2015 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2017 2019
dbSNP: rs4334089
rs4334089
VDR
3 0.925 0.080 12 47892232 intron variant G/A snv 0.36 0.020 1.000 2 2013 2014
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2014 2014