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: rs143399767
rs143399767 		1 9 93420421 downstream gene variant A/C snv 6.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs1470579
rs1470579
IGF2BP2
5 0.925 0.160 3 185811292 intron variant A/C snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs1552224
rs1552224
ARAP1
4 1.000 0.080 11 72722053 5 prime UTR variant A/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs16913693
rs16913693
ELP1
2 9 108918079 intron variant T/G snv 8.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs16980051
rs16980051
SYMPK
2 19 45842628 non coding transcript exon variant T/A;C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs16993414
rs16993414 		1 20 7327891 intergenic variant T/C snv 2.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs17066694
rs17066694 		1 5 166334297 intergenic variant A/G snv 4.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs17271340
rs17271340
VPS13C
2 15 62055686 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs17407594
rs17407594 		1 1 65704679 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs174535
rs174535
MYRF ; TMEM258
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2019 2019
dbSNP: rs174537
rs174537
MYRF ; TMEM258
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs174576
rs174576
FADS2
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs174583
rs174583
FADS2
16 0.807 0.320 11 61842278 intron variant C/T snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs17667932
rs17667932
MED30
2 1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17712208
rs17712208
PROX1-AS1
2 1 213977102 intron variant T/A snv 2.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs17747324
rs17747324
TCF7L2
4 0.925 0.160 10 112992744 intron variant T/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs17762454
rs17762454
RREB1
4 0.925 0.120 6 7212967 non coding transcript exon variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1783598
rs1783598
FCHSD2
3 1.000 0.080 11 73140418 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1919128
rs1919128
C2orf16
8 0.882 0.120 2 27578892 missense variant A/G snv 0.30 0.24 0.700 1.000 1 2015 2015
dbSNP: rs1983127
rs1983127
HKDC1 ; LOC101928994
2 10 69230145 intron variant G/T snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs2018860
rs2018860
IGF1R
3 0.925 0.120 15 98715481 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2042608
rs2042608
VPS13C
2 15 61940181 intron variant C/A snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs2068834
rs2068834
ZNF512
10 0.925 0.120 2 27616672 intron variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs2126259
rs2126259
LOC157273
9 1.000 8 9327636 intron variant T/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs2232326
rs2232326
SPC25 ; G6PC2
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018