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: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2572925
rs2572925
LY6D
1 1.000 0.040 8 142786489 missense variant C/G;T snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs2244163
rs2244163
LY6K ; LNCOC1
1 1.000 0.040 8 142703082 3 prime UTR variant T/G snv 0.42 0.43 0.700 1.000 1 2012 2012
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.860 1.000 6 2012 2019
dbSNP: rs1045574
rs1045574
PSCA
1 1.000 0.040 8 142682540 3 prime UTR variant G/A snv 0.46 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008