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: rs429699
rs429699
SLC6A3
3 0.925 0.080 5 1409012 intron variant T/C snv 0.96 0.98 0.010 < 0.001 1 2019 2019
dbSNP: rs1384236
rs1384236
SLC2A13
1 1.000 0.040 12 40064582 intron variant C/T snv 0.95 0.700 1.000 1 2017 2017
dbSNP: rs4768212
rs4768212
SLC2A13 ; LOC112268095
1 1.000 0.040 12 40080345 intron variant C/T snv 0.95 0.700 1.000 2 2012 2014
dbSNP: rs370
rs370
FRY ; EEF1DP3
1 1.000 0.040 13 31908207 intron variant T/C snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs2451078
rs2451078
TPTE2
1 1.000 0.040 13 19524149 intron variant G/C snv 0.93 0.700 1.000 1 2011 2011
dbSNP: rs10737170
rs10737170
LMNA
1 1.000 0.040 1 156094089 intron variant C/A snv 0.90 0.700 1.000 1 2014 2014
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2012 2012
dbSNP: rs823128
rs823128
NUCKS1
1 1.000 0.040 1 205744250 intron variant G/A snv 0.88 0.850 1.000 6 2009 2018
dbSNP: rs10247962
rs10247962
TFR2
2 1.000 0.040 7 100622306 intron variant G/A snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs2744687
rs2744687
PRDM2
1 1.000 0.040 1 13812318 intron variant T/G snv 0.88 0.010 1.000 1 2011 2011
dbSNP: rs2744690
rs2744690
PRDM2
1 1.000 0.040 1 13811306 intron variant A/C snv 0.87 0.010 1.000 1 2011 2011
dbSNP: rs2421095
rs2421095
SPR
1 1.000 0.040 2 72886395 upstream gene variant G/A snv 0.86 0.010 1.000 1 2003 2003
dbSNP: rs415430
rs415430
WNT3 ; LRRC37A2
3 1.000 0.040 17 46781778 intron variant C/T snv 0.84 0.800 1.000 2 2011 2011
dbSNP: rs199515
rs199515
WNT3 ; LRRC37A2
3 0.925 0.120 17 46779275 intron variant G/C snv 0.84 0.800 1.000 1 2012 2012
dbSNP: rs823122
rs823122 		1 1.000 0.040 1 205755900 intergenic variant C/T snv 0.83 0.710 1.000 2 2011 2012
dbSNP: rs3785883
rs3785883
MAPT
2 0.925 0.080 17 45977067 non coding transcript exon variant A/G snv 0.81 0.010 < 0.001 1 2009 2009
dbSNP: rs168552
rs168552
SNCA ; LOC105377329
1 1.000 0.040 4 89721993 intron variant C/T snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs356186
rs356186
SNCA
1 1.000 0.040 4 89784213 intron variant A/G snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.040 0.500 4 2010 2019
dbSNP: rs35479735
rs35479735
NR4A2
1 1.000 0.040 2 156326700 intron variant C/- delins 0.71 0.79 0.020 0.500 2 2017 2017
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2005 2005
dbSNP: rs2197120
rs2197120
SNCA
1 1.000 0.040 4 89808451 intron variant A/G snv 0.78 0.700 1.000 2 2011 2012
dbSNP: rs1372520
rs1372520
SNCA ; SNCA-AS1
1 1.000 0.040 4 89836354 intron variant T/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs356180
rs356180
SNCA ; LOC105377329
1 1.000 0.040 4 89706976 intron variant A/G snv 0.77 0.700 1.000 1 2011 2011