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: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1553517323
rs1553517323
COL5A2
4 1.000 2 189085204 missense variant C/A snv 0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
11 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
8 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
dbSNP: rs1443187318
rs1443187318
AEBP1
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
dbSNP: rs542489955
rs542489955
FKBP14 ; LOC105375215
6 0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1057518871
rs1057518871
COL5A1
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1554726245
rs1554726245
COL5A1 ; LOC101448202
4 9 134834982 inframe deletion ACGCCGAGG/- delins 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs142239530
rs142239530
STIM1
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs121918467
rs121918467
PTPN11
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0