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: rs6903823
rs6903823
ZSCAN31 ; ZKSCAN3
4 6 28354519 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs12716852
rs12716852
WWOX
4 16 78154841 intron variant G/A snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs11855326
rs11855326
THSD4
2 15 71318496 intron variant G/A snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs11858540
rs11858540
THSD4
2 15 71330447 intron variant T/G snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs12441227
rs12441227
THSD4
3 15 71404547 intron variant A/G snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs12899618
rs12899618
THSD4
4 15 71352781 intron variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs1441361
rs1441361
THSD4
2 15 71332783 intron variant A/G snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs17786786
rs17786786
THSD4
2 15 71316280 intron variant A/C snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs1837762
rs1837762
THSD4
2 15 71319964 intron variant G/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs6494904
rs6494904
THSD4
2 15 71317183 intron variant G/A snv 0.65 0.700 1.000 1 2014 2014
dbSNP: rs8033889
rs8033889
THSD4
2 15 71387741 intron variant G/T snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs153916
rs153916
SPATA9
4 1.000 0.040 5 95700996 upstream gene variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs3867498
rs3867498
SNRPN ; SNHG14
3 15 24833640 intron variant G/A snv 0.14 0.700 1.000 1 2007 2007
dbSNP: rs1036429
rs1036429
SNRPF ; CCDC38
4 12 95877650 intron variant T/C snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs1529672
rs1529672
RARB
6 1.000 0.040 3 25479091 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs16909898
rs16909898
PTCH1 ; LOC100507346
4 9 95468726 intron variant A/G snv 8.4E-02 0.10 0.700 1.000 1 2010 2010
dbSNP: rs10512249
rs10512249
PTCH1
2 9 95494027 intron variant G/A snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs16909859
rs16909859
PTCH1
2 9 95442510 downstream gene variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs2282041
rs2282041
PTCH1
2 9 95486105 intron variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs2282043
rs2282043
PTCH1
2 9 95450326 3 prime UTR variant C/T snv 6.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs3824488
rs3824488
PTCH1
2 9 95474382 intron variant C/T snv 6.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs10947233
rs10947233
PPT2 ; PPT2-EGFL8
4 0.925 0.160 6 32156647 intron variant G/C;T snv 3.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs2856437
rs2856437
PBX2
3 1.000 0.120 6 32189587 intron variant G/A snv 3.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs3094548
rs3094548
OR5V1 ; OR12D3
4 6 29387425 intron variant G/A;C snv 0.700 1.000 1 2011 2011