Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1495741 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 6
rs1063192
CDKN2B ; CDKN2B-AS1
0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 6
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 6
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs11191454
LOC107984265 ; BORCS7-ASMT ; AS3MT
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs587776783
LOC112268118 ; RB1
0.851 0.200 13 48373493 splice donor variant G/A snv 5
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 5
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs1555515731
CDH1
0.882 0.160 16 68812189 frameshift variant T/- delins 4
rs2157719
CDKN2B-AS1
0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 4
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 4
rs907611
LSP1
0.882 0.160 11 1852842 upstream gene variant G/A snv 0.26 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs11892031
UGT1A10 ; UGT1A8
0.882 0.120 2 233656637 intron variant A/C;T snv 4
rs710521 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 3
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 3
rs10094872
CASC11
0.882 0.200 8 127707639 intron variant A/T snv 0.33 3
rs9642880
CASC11
0.776 0.240 8 127705823 intron variant G/A;T snv 3
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 3
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 3
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs1014971 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 2