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: rs193922906
rs193922906
PRNP
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs1460163
rs1460163 		1 1.000 0.120 8 79315213 downstream gene variant G/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs4921542
rs4921542
MTMR7 ; LOC102724838
1 1.000 0.120 8 17348068 intron variant T/G snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516
PRNP
2 1.000 0.120 20 4696446 intron variant G/A snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs6116492
rs6116492 		1 1.000 0.120 20 4717980 upstream gene variant G/T snv 7.0E-02 0.800 1.000 1 2012 2012
dbSNP: rs7565981
rs7565981 		1 1.000 0.120 2 100807869 intergenic variant G/A snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs16840647
rs16840647
RGS7
1 1.000 0.120 1 240799770 intron variant A/G snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs2065706
rs2065706 		1 1.000 0.120 20 4702649 downstream gene variant T/C snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3863150
rs3863150
PLCXD3
1 1.000 0.120 5 41506758 intron variant T/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs6052780
rs6052780 		1 1.000 0.120 20 4708828 intergenic variant G/A;T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs676328
rs676328
PLCXD3
1 1.000 0.120 5 41505587 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs8074026
rs8074026
SERPINF2
3 0.882 0.160 17 1753779 intron variant T/C snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1178466848
rs1178466848
PRNP
4 0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1191139947
rs1191139947
PRNP
3 0.882 0.120 20 4699935 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1290309353
rs1290309353
AZIN2
3 0.882 0.120 1 33096833 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1378923121
rs1378923121
MAPT
2 0.925 0.120 17 45983474 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1405757246
rs1405757246
GPI
3 0.882 0.120 19 34379521 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs140842009
rs140842009
GPI
3 0.882 0.120 19 34378959 missense variant C/A;T snv 4.0E-06; 5.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1473972013
rs1473972013
CYP4X1
3 0.925 0.160 1 47035911 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16990018
rs16990018
PRNP
5 0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs181348299
rs181348299
PRNP
1 1.000 0.120 20 4699663 missense variant G/A snv 3.2E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs2245220
rs2245220
PRND
3 0.882 0.160 20 4725072 missense variant C/G;T snv 4.1E-06; 0.46 0.52 0.010 < 0.001 1 2004 2004
dbSNP: rs295301
rs295301 		5 0.851 0.160 3 141619799 downstream gene variant G/A snv 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs35453518
rs35453518
PRND
1 1.000 0.120 20 4724718 missense variant C/A;T snv 8.0E-06; 8.1E-03 0.010 1.000 1 2004 2004