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: rs587776905
rs587776905
GUCY2C ; C12orf60
1 1.000 0.040 12 14672883 missense variant T/C snv 4.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs587784572
rs587784572
GUCY2C ; C12orf60
1 1.000 0.040 12 14641142 missense variant C/T snv 3.2E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs587784573
rs587784573
GUCY2C ; C12orf60 ; PLBD1-AS1
1 1.000 0.040 12 14619304 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs730880325
rs730880325
GUCY2C ; C12orf60
1 1.000 0.040 12 14625894 frameshift variant -/T delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 1998 2019
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 0.500 2 1996 1999
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 < 0.001 1 1999 1999
dbSNP: rs146521846
rs146521846
CFTR
2 0.925 0.120 7 117611794 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs17563161
rs17563161
SLC9A3
4 0.882 0.040 5 497509 intron variant G/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2019 2019
dbSNP: rs2734705
rs2734705
CLCA1
2 0.925 0.120 1 86486641 missense variant A/G snv 0.86 0.87 0.010 1.000 1 2010 2010
dbSNP: rs3788766
rs3788766
SLC6A14
2 1.000 0.040 X 116435671 upstream gene variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs397508185
rs397508185
CFTR ; CFTR-AS1
2 0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs7512462
rs7512462
SLC26A9
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs77010898
rs77010898
CFTR
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 1992 1992