Source: CURATED ×
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: rs7406910
rs7406910
HOXB7
3 17 48610894 missense variant T/C snv 0.88 0.88 0.700 1.000 1 2016 2016
dbSNP: rs9907379
rs9907379
LINC02875
1 17 61412532 non coding transcript exon variant T/C snv 0.74 0.77 0.700 1.000 1 2018 2018
dbSNP: rs7302981
rs7302981
CERS5
4 12 50144032 missense variant A/G;T snv 0.69 0.71 0.700 1.000 2 2016 2016
dbSNP: rs2240736
rs2240736
TBX2
4 17 61408032 non coding transcript exon variant C/T snv 0.64 0.68 0.700 1.000 1 2018 2018
dbSNP: rs661348
rs661348
LSP1
5 11 1884062 intron variant T/C snv 0.43 0.37 0.700 1.000 1 2018 2018
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs2270860
rs2270860
SLC22A7 ; CRIP3
4 6 43302413 splice region variant C/T snv 0.37 0.43 0.700 1.000 1 2018 2018
dbSNP: rs1126464
rs1126464
DPEP1
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 1 2016 2016
dbSNP: rs11229457
rs11229457
OR5B12
3 11 58439730 missense variant C/G;T snv 0.21 0.22 0.700 1.000 1 2016 2016
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
8 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 1 2011 2018
dbSNP: rs429358
rs429358
APOE
29 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.710 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
31 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.840 1.000 1 2011 2019
dbSNP: rs28404156
rs28404156
BST1
1 4 15736109 missense variant G/A snv 7.4E-02 0.10 0.700 1.000 1 2019 2019
dbSNP: rs13107325
rs13107325
SLC39A8
30 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs11537751
rs11537751
NDUFS3 ; CELF1 ; PTPMT1
1 11 47565900 missense variant C/T snv 3.7E-02 3.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs2230288
rs2230288
GBA
11 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs35529250
rs35529250
RBM47
3 4 40426074 missense variant C/G;T snv 1.2E-05; 3.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs142433332
rs142433332
DARS2
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs141498002
rs141498002
PMM2
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs104886142
rs104886142
COL4A5
4 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
dbSNP: rs533297350
rs533297350
COL4A4
5 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs569681869
rs569681869
COL4A4
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs28933386
rs28933386
PTPN11
14 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006