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: rs1074182
rs1074182
RBL2
2 1.000 0.080 16 53437445 intron variant T/G snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2270744
rs2270744
MYH10
3 1.000 0.080 17 8490582 intron variant G/C snv 0.36 0.35 0.010 1.000 1 2016 2016
dbSNP: rs427686
rs427686
RB1
1 1.000 0.080 13 48384180 intron variant C/T snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs70991108
rs70991108
DHFR ; MSH3
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 1.000 1 2012 2012
dbSNP: rs9568036
rs9568036
RB1 ; LPAR6
2 1.000 0.080 13 48397800 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1060503088
rs1060503088
RB1
1 1.000 0.080 13 48452981 intron variant T/G snv 0.700 0
dbSNP: rs587776791
rs587776791
RB1
1 1.000 0.080 13 48471962 intron variant A/G snv 0.700 0
dbSNP: rs587781256
rs587781256
RB1 ; LOC112268118
2 1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins 0.700 0
dbSNP: rs9535023
rs9535023
RB1 ; LOC112268118
1 1.000 0.080 13 48380039 intron variant A/G;T snv 4.2E-02 0.700 0
dbSNP: rs1131690863
rs1131690863
RB1
2 1.000 0.080 13 48362847 stop gained C/T snv 0.700 1.000 10 1994 2016
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
2 1.000 0.080 13 48368549 stop gained C/T snv 0.700 1.000 8 1995 2016
dbSNP: rs121913300
rs121913300
RB1 ; LOC112268118
2 1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05 0.700 1.000 7 1994 2017
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
2 1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06 0.710 1.000 7 1996 2016
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
2 1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06 0.700 1.000 7 1989 2016
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
2 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 6 1994 2016
dbSNP: rs137853293
rs137853293
RB1
2 1.000 0.080 13 48465238 stop gained C/T snv 0.700 1.000 5 1989 2015
dbSNP: rs587778842
rs587778842
RB1
2 1.000 0.080 13 48362859 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
2 1.000 0.080 13 48380062 stop gained C/A;G;T snv 7.6E-06 0.700 1.000 4 1995 2015
dbSNP: rs121913296
rs121913296
RB1
2 1.000 0.080 13 48345108 stop gained G/T snv 0.700 1.000 3 1996 2013
dbSNP: rs121913304
rs121913304
RB1 ; LOC112268118
4 0.925 0.080 13 48381414 stop gained C/T snv 0.700 1.000 3 2013 2015
dbSNP: rs121913305
rs121913305
RB1
2 1.000 0.080 13 48453032 stop gained C/T snv 0.700 1.000 3 2003 2015
dbSNP: rs1131690908
rs1131690908
RB1
2 1.000 0.080 13 48473383 stop gained C/A;G snv 0.700 1.000 1 1995 1995
dbSNP: rs121913298
rs121913298
RB1
1 1.000 0.080 13 48349012 stop gained T/A snv 0.700 1.000 1 2014 2014