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: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs12817488
rs12817488
CCDC62
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs11767557
rs11767557
EPHA1-AS1
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs4538475
rs4538475
BST1
2 1.000 0.040 4 15736314 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12734001
rs12734001
PPP1R12B
2 1.000 0.080 1 202421786 intron variant C/T snv 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs947211
rs947211
LOC105371702
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs2814707
rs2814707
C9orf72 ; LOC107987057 ; LOC112268043
4 0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs1016726
rs1016726
CHN2
1 7 29316787 intron variant G/A snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs1994090
rs1994090
SLC2A13
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1188539174
rs1188539174
LRRK2
1 12 40232341 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2012 2012
dbSNP: rs597668
rs597668
MARK4 ; BLOC1S3
3 0.925 0.080 19 45205630 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs393152
rs393152
LINC02210 ; LINC02210-CRHR1
7 0.851 0.160 17 45641777 non coding transcript exon variant A/G snv 0.18 0.29 0.700 1.000 1 2012 2012
dbSNP: rs6052751
rs6052751
RPS4XP2
1 20 4664427 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2756271
rs2756271
PRNP ; RPS4XP2
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516
PRNP
2 1.000 0.120 20 4696446 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs193922906
rs193922906
PRNP
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
dbSNP: rs74315414
rs74315414
PRNP
5 0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06 0.720 1.000 2 2008 2011
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.720 1.000 2 1993 1999