Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 11
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs1057515576
ARL6
0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv 4
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 3
rs375168720
DDHD2
0.882 0.120 8 38253642 missense variant G/C snv 6.0E-05 6.3E-05 3
rs121964976
GLDC
0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02 3
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 3
rs369841551
MC4R
0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06 3
rs796052908
MIR6766 ; POLG
0.882 0.160 15 89327329 frameshift variant AG/- delins 4.0E-06 1.4E-05 3
rs397515453
PIK3R1
0.752 0.440 5 68296301 missense variant C/T snv 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3