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: rs13175330
rs13175330
PAM
2 5 102840757 intron variant A/G snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs223361
rs223361
UBE2D3
1 4 102848147 intron variant T/C snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 2 2015 2017
dbSNP: rs2513877
rs2513877
AZIN1 ; AZIN1-AS1
1 8 102871402 intron variant G/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs17135875
rs17135875
FBXL13
3 7 102878584 intron variant T/C snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs943037
rs943037
CNNM2
2 10 103076162 synonymous variant C/T snv 0.12 8.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 3 2011 2018
dbSNP: rs7129220
rs7129220
AMPD3 ; CAND1.11
5 11 10328991 intron variant G/A snv 0.10 0.700 1.000 2 2011 2017
dbSNP: rs1450271
rs1450271
AMPD3 ; CAND1.11
2 11 10334568 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs13390641
rs13390641 		3 2 103419975 intergenic variant G/A snv 0.12 0.700 1.000 1 2014 2014
dbSNP: rs4387287
rs4387287
STN1
4 10 103918139 5 prime UTR variant A/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs111447985
rs111447985
STN1
1 10 103918153 5 prime UTR variant C/A;T snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11191871
rs11191871
LOC102724351
2 10 103947673 intergenic variant A/G snv 5.2E-02 0.700 1.000 2 2018 2018
dbSNP: rs34161718
rs34161718
KIF26A
1 14 104153856 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3063286
rs3063286
SLX4IP
1 20 10507905 intron variant TA/-;TATA;TATATA;TATATATA;TATATATATA delins 0.700 1.000 1 2019 2019
dbSNP: rs191784289
rs191784289
SORCS3
2 10 105135184 intron variant C/T snv 8.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs72613227
rs72613227
LOC105377923
1 6 105872896 intron variant A/T snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs35287509
rs35287509
PTPRD
1 9 10594635 intron variant T/C snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs13112725
rs13112725
NPNT
2 4 105990585 intron variant G/C snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs1330225
rs1330225 		3 1 106293321 intergenic variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs2392929
rs2392929 		4 7 106773623 upstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7020564
rs7020564
ZNF462
1 9 106907735 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs568998724
rs568998724
LOC340512
1 9 107040156 intron variant G/A snv 6.8E-04 0.700 1.000 1 2017 2017
dbSNP: rs7951348
rs7951348 		2 11 107211115 intergenic variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs6995692
rs6995692
PINX1 ; SOX7 ; LOC102723313
2 8 10729498 non coding transcript exon variant G/C;T snv 0.60 0.700 1.000 1 2018 2018