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: 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: rs9535023
rs9535023
RB1 ; LOC112268118
1 1.000 0.080 13 48380039 intron variant A/G;T snv 4.2E-02 0.700 0
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.030 1.000 3 2016 2018
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2016 2016
dbSNP: rs886042357
rs886042357
RB1
1 1.000 0.080 13 48342708 frameshift variant A/- delins 0.700 0
dbSNP: rs886037649
rs886037649
RB1 ; RB1-DT
1 1.000 0.080 13 48304025 frameshift variant GCC/CT delins 0.700 0
dbSNP: rs878853949
rs878853949
RB1
2 1.000 0.080 13 48459780 stop gained C/T snv 0.700 0
dbSNP: rs878853947
rs878853947
RB1 ; LOC112268118
1 1.000 0.080 13 48373431 stop gained T/G snv 0.700 0
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2014 2014
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs769412
rs769412
MDM2
6 0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs768305224
rs768305224
RB1
2 1.000 0.080 13 48360053 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs767011440
rs767011440
RB1 ; LOC112268118
1 1.000 0.080 13 48368550 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 19 1989 2017
dbSNP: rs759338099
rs759338099
CDK6
2 0.925 0.160 7 92833212 missense variant G/C snv 4.1E-06 0.010 1.000 1 2003 2003
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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs587781257
rs587781257
RB1
1 1.000 0.080 13 48456295 frameshift variant T/- delins 0.700 0
dbSNP: rs587781256
rs587781256
RB1 ; LOC112268118
2 1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins 0.700 0
dbSNP: rs587779349
rs587779349
BRCA2
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587778871
rs587778871
RB1
2 1.000 0.080 13 48456354 splice region variant G/A;C snv 0.700 0
dbSNP: rs587778870
rs587778870
RB1
1 1.000 0.080 13 48345145 stop gained C/G;T snv 2.4E-05 0.700 0
dbSNP: rs587778869
rs587778869
RB1 ; RB1-DT
1 1.000 0.080 13 48304015 stop gained C/G;T snv 0.700 0
dbSNP: rs587778868
rs587778868
RB1
1 1.000 0.080 13 48463833 stop gained G/T snv 0.700 0
dbSNP: rs587778867
rs587778867
RB1
1 1.000 0.080 13 48459686 splice acceptor variant A/T snv 0.700 0
dbSNP: rs587778866
rs587778866
RB1
1 1.000 0.080 13 48456316 missense variant A/G snv 0.700 0