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: rs7302981
rs7302981
CERS5
4 12 50144032 missense variant A/G;T snv 0.69 0.71 0.700 1.000 3 2016 2017
dbSNP: rs76987554
rs76987554
TARID
4 6 133759717 intron variant C/T snv 2.9E-02 0.700 1.000 3 2017 2018
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.700 1.000 3 2016 2019
dbSNP: rs9549328
rs9549328
MCF2L
2 13 112981842 intron variant C/T snv 0.21 0.700 1.000 3 2017 2019
dbSNP: rs10048404
rs10048404
WDR7
1 18 56911251 intron variant C/T snv 0.28 0.700 1.000 2 2018 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 2 2018 2019
dbSNP: rs10077885
rs10077885 		2 5 115054424 regulatory region variant C/A snv 0.56 0.700 1.000 2 2016 2018
dbSNP: rs1012089
rs1012089 		1 16 74138074 intron variant C/G;T snv 0.40 0.700 1.000 2 2018 2019
dbSNP: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 2 2018 2018
dbSNP: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 2 2016 2017
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2018 2019
dbSNP: rs10734252
rs10734252 		3 1.000 0.080 11 17383292 non coding transcript exon variant G/A snv 0.71 0.700 1.000 2 2018 2019
dbSNP: rs10747570
rs10747570
COX14
2 12 50116154 intron variant A/C;G;T snv 0.700 1.000 2 2017 2019
dbSNP: rs10776752
rs10776752
WNT2B
4 1 112501706 intron variant G/T snv 8.8E-02 0.700 1.000 2 2018 2019
dbSNP: rs10852858
rs10852858
CRK
1 17 1454457 intron variant C/T snv 0.39 0.700 1.000 2 2019 2019
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.700 1.000 2 2009 2017
dbSNP: rs11105354
rs11105354
ATP2B1
3 12 89632746 intron variant A/G snv 0.15 0.700 1.000 2 2016 2019
dbSNP: rs11112548
rs11112548 		1 12 105478136 regulatory region variant A/T snv 3.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs11210029
rs11210029 		1 1 41399621 regulatory region variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs112184198
rs112184198 		1 10 100844757 intergenic variant G/A snv 9.3E-02 0.700 1.000 2 2017 2019
dbSNP: rs112913898
rs112913898 		3 10 103199143 intergenic variant G/A snv 9.1E-02 0.700 1.000 2 2018 2018
dbSNP: rs1133400
rs1133400
INPP5A
4 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 0.700 1.000 2 2018 2019
dbSNP: rs11632436
rs11632436 		1 15 85752055 intron variant G/A;C snv 0.39 0.700 1.000 2 2018 2019
dbSNP: rs11636952
rs11636952
LMAN1L
5 15 74821981 intron variant T/C snv 0.48 0.700 1.000 2 2018 2019
dbSNP: rs11642015
rs11642015
FTO
9 0.925 0.120 16 53768582 intron variant C/T snv 0.31 0.700 1.000 2 2018 2018