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: rs1566234123
rs1566234123
RB1
1 1.000 0.080 13 48456342 frameshift variant -/A delins 0.700 1.000 5 2005 2015
dbSNP: rs1566174147
rs1566174147
RB1 ; RB1-DT
1 1.000 0.080 13 48304003 frameshift variant -/A delins 0.700 0
dbSNP: rs1566186087
rs1566186087
RB1
1 1.000 0.080 13 48342631 frameshift variant -/A ins 0.700 0
dbSNP: rs587778828
rs587778828
RB1 ; LOC112268118
1 1.000 0.080 13 48364911 frameshift variant -/A delins 0.700 0
dbSNP: rs1555294600
rs1555294600
RB1
1 1.000 0.080 13 48465033 frameshift variant -/AA ins 0.700 0
dbSNP: rs1555285429
rs1555285429
RB1 ; LOC112268118
1 1.000 0.080 13 48367532 stop gained -/AAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGA delins 0.700 0
dbSNP: rs1555283670
rs1555283670
RB1
1 1.000 0.080 13 48349012 stop gained -/ATTAG delins 0.700 0
dbSNP: rs1131690852
rs1131690852
RB1 ; RB1-DT
2 1.000 0.080 13 48303925 frameshift variant -/C delins 0.700 1.000 3 2003 2015
dbSNP: rs587778830
rs587778830
RB1 ; LOC112268118
1 1.000 0.080 13 48373422 frameshift variant -/C delins 0.700 0
dbSNP: rs587778851
rs587778851
RB1
1 1.000 0.080 13 48476704 frameshift variant -/C delins 0.700 0
dbSNP: rs1566233014
rs1566233014
RB1
1 1.000 0.080 13 48453034 frameshift variant -/G delins 0.700 0
dbSNP: rs587776790
rs587776790
RB1 ; RB1-DT
1 1.000 0.080 13 48303953 frameshift variant -/GCTGCCGCCGCGGAACCCCCGGC delins 0.700 0
dbSNP: rs1555279212
rs1555279212
RB1 ; RB1-DT
1 1.000 0.080 13 48303958 frameshift variant -/GGAACCCCCGGCACCGCCGC delins 0.700 0
dbSNP: rs1555279210
rs1555279210
RB1 ; RB1-DT
2 1.000 0.080 13 48303957 frameshift variant -/GGAACCCCCGGCACCGCCGCCGC delins 0.700 1.000 1 2011 2011
dbSNP: rs1555286236
rs1555286236
RB1 ; LOC112268118
1 1.000 0.080 13 48376977 frameshift variant -/T delins 0.700 0
dbSNP: rs1566237098
rs1566237098
RB1
1 1.000 0.080 13 48463794 frameshift variant -/T delins 0.700 0
dbSNP: rs587778854
rs587778854
RB1
1 1.000 0.080 13 48345161 frameshift variant -/T delins 0.700 0
dbSNP: rs587778824
rs587778824
RB1
1 1.000 0.080 13 48307368 frameshift variant -/TA delins 0.700 0
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: rs1555286707
rs1555286707
RB1 ; LOC112268118
1 1.000 0.080 13 48381420 frameshift variant -/TG delins 0.700 0
dbSNP: rs1566186889
rs1566186889
RB1
1 1.000 0.080 13 48345163 stop gained -/TGAT delins 0.700 0
dbSNP: rs587778836
rs587778836
RB1
1 1.000 0.080 13 48465012 frameshift variant -/TGAT delins 0.700 0
dbSNP: rs1566174074
rs1566174074
RB1 ; RB1-DT
1 1.000 0.080 13 48303952 frameshift variant -/TGCCGCCGCGGAACCCCCGGCACCGC delins 0.700 0
dbSNP: rs1131690901
rs1131690901
RB1 ; LOC112268118
2 1.000 0.080 13 48364897 frameshift variant A/- delins 0.700 1.000 2 2014 2017
dbSNP: rs1555283482
rs1555283482
RB1
1 1.000 0.080 13 48347833 frameshift variant A/- delins 0.700 0