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: rs397514702
rs397514702
WNT1 ; WNT10B
2 1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06 0.740 1.000 6 2013 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs6532023
rs6532023 		3 1.000 0.080 4 87852697 regulatory region variant T/G snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs7227401
rs7227401
OSBPL1A
1 1.000 0.080 18 24358694 intron variant T/G snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs2273073
rs2273073
BMP2
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.020 0.500 2 2006 2008
dbSNP: rs10832915
rs10832915
SAA1
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs186628781
rs186628781
DMD
1 1.000 0.080 X 32472271 missense variant T/C;G snv 1.1E-04 0.010 1.000 1 2005 2005
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs297325
rs297325
SOX6
2 0.925 0.120 11 16368048 intron variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.020 1.000 2 2013 2019
dbSNP: rs3102735
rs3102735
TNFRSF11B ; COLEC10
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.020 1.000 2 2014 2019
dbSNP: rs10203122
rs10203122
FTCDNL1
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1044032
rs1044032
SQOR
2 0.925 0.080 15 45676237 missense variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1255801434
rs1255801434
SLCO6A1
1 1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs17289263
rs17289263
CER1
1 1.000 0.080 9 14720363 synonymous variant T/C snv 9.2E-02 9.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800247
rs1800247
BGLAP ; PMF1-BGLAP
4 0.882 0.200 1 156242034 intron variant T/C snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs2502992
rs2502992
CNR2
1 1.000 0.080 1 23875429 synonymous variant T/C snv 4.0E-06; 0.62 0.64 0.010 1.000 1 2015 2015
dbSNP: rs3130340
rs3130340
TSBP1-AS1
5 0.851 0.200 6 32276850 intron variant T/C snv 0.25 0.010 1.000 1 2011 2011