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: rs78154696
rs78154696 		1 1.000 0.080 5 1000041 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7534220
rs7534220
RTCA-AS1
1 1.000 0.080 1 100258911 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs79398649
rs79398649 		1 1.000 0.080 5 1004587 upstream gene variant G/T snv 6.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs62621207
rs62621207
SLF2
1 1.000 0.080 10 100912491 non coding transcript exon variant A/T snv 3.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs35440884
rs35440884 		1 1.000 0.080 9 105051392 intron variant G/A snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7679673
rs7679673 		25 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
73 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 1 2015 2016
dbSNP: rs1805076
rs1805076
PPP2R1B
2 0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 0.700 0
dbSNP: rs7086803
rs7086803
VTI1A
4 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.720 1.000 1 2012 2018
dbSNP: rs2071460
rs2071460
CSNK2A3 ; GALNT18
1 1.000 0.080 11 11352722 missense variant A/G snv 0.48 0.41 0.700 0
dbSNP: rs78334599
rs78334599
LOC107984393
1 1.000 0.080 11 116128039 intergenic variant G/A snv 2.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs9387478
rs9387478
DCBLD1
3 0.851 0.080 6 117465017 intron variant C/A;T snv 0.710 1.000 1 2012 2016
dbSNP: rs1629083
rs1629083
MPZL2
1 1.000 0.080 11 118255861 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs61677309
rs61677309 		1 1.000 0.080 11 118297371 intergenic variant A/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs11200014
rs11200014
FGFR2
17 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7725218
rs7725218
TERT
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7299138
rs7299138
TMEM132C
1 1.000 0.080 12 128586392 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
TERT
16 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 2 2010 2015
dbSNP: rs2853677
rs2853677
TERT
6 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.740 1.000 1 2016 2019
dbSNP: rs7042889
rs7042889 		2 0.925 0.080 9 129033082 upstream gene variant A/C snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs2918130
rs2918130
TCERG1L ; LOC105378563
1 1.000 0.080 10 131203676 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs11514963
rs11514963
MKLN1
1 1.000 0.080 7 131247904 intron variant C/T snv 0.81 0.700 1.000 1 2017 2017