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: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2014 2015
dbSNP: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 0.020 1.000 2 2016 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 2000 2001
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
dbSNP: rs6441201
rs6441201
RSRC1
3 0.882 0.080 3 158460535 intron variant G/A snv 0.51 0.020 1.000 2 2017 2018
dbSNP: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.020 1.000 2 1997 2000
dbSNP: rs863225285
rs863225285
ALK
5 0.851 0.080 2 29209789 missense variant T/G snv 0.020 1.000 2 2017 2018
dbSNP: rs10055201
rs10055201
IL31RA
3 0.882 0.080 5 55865274 intron variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs104893855
rs104893855
PHOX2B ; PHOX2B-AS1
4 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs104893856
rs104893856
PHOX2B
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1059111
rs1059111
NEFL
5 0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10895322
rs10895322
MMP20
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs11037575
rs11037575
HSD17B12
4 0.882 0.080 11 43706780 intron variant T/C snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs110420
rs110420
LMO1 ; LOC105376536
3 0.882 0.080 11 8231502 intron variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs11103603
rs11103603 		4 0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11247957
rs11247957
LIN28A
3 0.882 0.080 1 26429683 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs11669203
rs11669203
MAP2K7 ; TGFBR3L
4 0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15 0.010 1.000 1 2016 2016