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: rs145171629
rs145171629
NLRP12
1 1.000 0.040 19 53810801 synonymous variant G/A;C snv 3.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs61734270
rs61734270
PTGIS
1 1.000 0.040 20 49524089 missense variant C/T snv 9.8E-04 9.6E-04 0.700 1.000 1 2016 2016
dbSNP: rs745452577
rs745452577
HSPG2
1 1.000 0.040 1 21865798 synonymous variant G/A snv 3.2E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs748809996
rs748809996
PDZRN3
1 1.000 0.040 3 73602452 missense variant C/T snv 2.2E-05 9.6E-06 0.700 1.000 1 2016 2016
dbSNP: rs759748655
rs759748655
TTBK1
1 1.000 0.040 6 43255768 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs776061422
rs776061422
GPR153
1 1.000 0.040 1 6254689 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs781821239
rs781821239
B3GNT6
1 1.000 0.040 11 77040103 missense variant C/G;T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs863223346
rs863223346
FREM2
1 1.000 0.040 13 38876091 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs863223347
rs863223347
PIPOX ; SEZ6 ; LOC105371716
1 1.000 0.040 17 28981409 inframe deletion AGTGGTGGT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs863223348
rs863223348
GALNT4 ; POC1B ; POC1B-GALNT4
1 1.000 0.040 12 89523356 synonymous variant G/A snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs863223349
rs863223349
ITGA6
1 1.000 0.040 2 172504158 inframe deletion AGA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs863223350
rs863223350
GTF2IRD1
1 1.000 0.040 7 74521264 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs863223351
rs863223351
STAC2
1 1.000 0.040 17 39218007 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs863223352
rs863223352
HGS ; ARL16
1 1.000 0.040 17 81683794 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs863223353
rs863223353
MEST
1 1.000 0.040 7 130499898 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs863223354
rs863223354
RYR2
1 1.000 0.040 1 237500743 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs863223355
rs863223355
RYR2
1 1.000 0.040 1 237500745 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs863223356
rs863223356
RELA ; RELA-DT
1 1.000 0.040 11 65661693 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2011 2011