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: rs1052693
rs1052693
GTF2H4
1 6 30908375 5 prime UTR variant C/T snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs11575839
rs11575839
NCR3
1 6 31590014 synonymous variant G/A snv 4.8E-02 4.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs2071278
rs2071278
NOTCH4
2 1.000 0.120 6 32197667 intron variant A/G snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs2075799
rs2075799
HSPA1L
2 1.000 0.040 6 31810752 synonymous variant C/T snv 0.10 0.13 0.800 1.000 1 2012 2012
dbSNP: rs241428
rs241428
TAP2
1 6 32836293 intron variant T/G snv 4.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs2857009
rs2857009
TNXB
2 1.000 0.080 6 32051969 intron variant G/C snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs3763317
rs3763317
BTNL2
2 1.000 0.040 6 32409011 upstream gene variant C/T snv 0.49 0.800 1.000 1 2012 2012
dbSNP: rs9276606
rs9276606 		1 6 32768918 intergenic variant A/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs1634718
rs1634718
MUC22
3 0.925 0.160 6 31005088 regulatory region variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs2239805
rs2239805
HLA-DRA
2 1.000 0.120 6 32443599 intron variant T/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs3745567
rs3745567
C3
2 19 6690760 intron variant C/T snv 0.11 0.11 0.700 1.000 1 2012 2012
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs409558
rs409558
MSH5 ; MSH5-SAPCD1 ; LOC105375020
2 6 31740370 5 prime UTR variant T/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs805273
rs805273
ABHD16A
1 6 31697675 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs8283
rs8283
ATF6B ; TNXB
7 0.882 0.120 6 32115523 3 prime UTR variant A/G snv 0.25 0.700 1.000 1 2017 2017