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: rs80357064
rs80357064
6 0.846 0.179 17 43106478 stop lost A/C,G snp 1.2E-05 0.710 1.000 21 1995 2017
dbSNP: rs80357382
rs80357382
9 0.784 0.214 17 43106457 missense variant T/C snp 4.0E-06 0.710 1.000 19 1999 2017
dbSNP: rs28897672
rs28897672
12 0.756 0.214 17 43106487 missense variant A/C,G,T snp 3.2E-05 0.700 40 1995 2017
dbSNP: rs28897696
rs28897696
9 0.801 0.179 17 43063903 missense variant G/A,C,T snp 2.8E-05; 4.0E-06; 2.0E-05 3.2E-05 0.700 32 1994 2017
dbSNP: rs41293463
rs41293463
8 0.801 0.179 17 43051071 missense variant A/C,T snp 1.2E-05 3.2E-05 0.700 32 1994 2017
dbSNP: rs80357783
rs80357783
6 0.923 0.179 17 43124030 frameshift variant C/CG,CCT,CT in-del 4.0E-06 0.700 32 1995 2017
dbSNP: rs41293455
rs41293455
9 0.801 0.179 17 43082434 stop gained G/A,C snp 2.4E-05; 3.2E-05 3.2E-05; 3.2E-05 0.700 31 1995 2017
dbSNP: rs28897743
rs28897743
7 0.821 0.250 13 32346896 missense variant G/A,C,T snp 4.0E-06 0.700 28 1997 2017
dbSNP: rs41293465
rs41293465
5 0.923 0.179 17 43045767 stop gained G/A snp 1.2E-05 0.700 28 1996 2017
dbSNP: rs386833395
rs386833395
5 0.923 0.179 17 43124028 frameshift variant ACT/A in-del 0.700 23 1995 2017
dbSNP: rs80357609
rs80357609
4 0.923 0.179 17 43091827 frameshift variant GTTTAC/G in-del 0.700 23 1995 2017
dbSNP: rs80359013
rs80359013
3 1.000 0.179 13 32362595 stop gained G/A,C snp 8.0E-06 0.700 22 2002 2017
dbSNP: rs80357069
rs80357069
6 0.846 0.179 17 43049164 missense variant C/A,T snp 4.0E-06; 4.0E-06 0.700 21 1998 2017
dbSNP: rs80357389
rs80357389
6 0.846 0.179 17 43076488 missense variant C/A,G,T snp 4.0E-06 0.700 21 1997 2017
dbSNP: rs80359351
rs80359351
6 0.923 0.179 13 32337161 frameshift variant TAAAC/T in-del 0.700 21 1996 2017
dbSNP: rs41293511
rs41293511
3 1.000 0.179 13 32363369 missense variant G/C snp 0.700 20 2001 2017
dbSNP: rs80357123
rs80357123
4 1.000 0.179 17 43057078 stop gained G/A,T snp 1.2E-05 3.2E-05 0.700 20 1998 2017
dbSNP: rs80357268
rs80357268
3 1.000 0.179 17 43045773 missense variant C/T snp 4.0E-06 0.700 20 1998 2017
dbSNP: rs80357701
rs80357701
4 1.000 0.179 17 43092199 frameshift variant TTGCT/T in-del 0.700 20 1996 2017
dbSNP: rs80359071
rs80359071
3 1.000 0.179 13 32363445 stop gained G/A snp 8.0E-06 0.700 20 2004 2017
dbSNP: rs80359212
rs80359212
5 0.923 0.179 13 32394814 stop gained C/T snp 1.2E-05 9.6E-05 0.700 20 1990 2017
dbSNP: rs62625308
rs62625308
5 0.923 0.179 17 43091924 stop gained G/A,C snp 1.2E-05 0.700 19 1995 2017
dbSNP: rs80357522
rs80357522
4 1.000 0.179 17 43093570 frameshift variant CT/C in-del 0.700 19 1996 2017
dbSNP: rs80357711
rs80357711
4 0.923 0.179 17 43091496 frameshift variant CT/C in-del 0.700 19 1996 2017
dbSNP: rs80358981
rs80358981
5 1.000 0.179 13 32356550 stop gained C/T snp 2.0E-05 0.700 19 1997 2017