Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs1057515576
ARL6
0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5
rs74315416
PROKR2
0.882 0.160 20 5302677 missense variant A/C snv 2.3E-03 2.1E-03 1
rs74315418
PROKR2
0.827 0.160 20 5314116 missense variant C/A;T snv 3.3E-04; 7.1E-04 1
rs587777343
STUB1 ; JMJD8
0.925 0.120 16 682232 missense variant C/T snv 1
rs690016544
STUB1 ; JMJD8 ; LINC02867
0.882 0.160 16 681186 missense variant A/G snv 4.8E-06 1
rs144292455
TACR3
0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04 1