Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520918
rs1057520918
19 13262780 stop gained C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 45 1988 2017
dbSNP: rs1131691712
rs1131691712
19 13286952 frameshift variant G/GA in-del 4.2E-06
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 45 1988 2017
dbSNP: rs121909324
rs121909324
1.000 0.107 19 13255217 stop gained G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 45 1988 2017
dbSNP: rs886037945
rs886037945
1.000 19 13303584 missense variant C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 45 1988 2017
dbSNP: rs57077886
rs57077886
0.821 0.214 1 156114947 missense variant C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 35 1999 2012
dbSNP: rs757823678
rs757823678
1.000 2 25240312 missense variant C/A,T snp 4.0E-06
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 35 1989 2018
dbSNP: rs781139634
rs781139634
2 25235768 stop gained G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 35 1989 2018
dbSNP: rs1064794276
rs1064794276
NF1
17 31235641 frameshift variant GTTTG/G in-del
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 34 1967 2017
dbSNP: rs137854562
rs137854562
NF1
1.000 0.107 17 31235623 stop gained C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 34 1967 2017
dbSNP: rs786201874
rs786201874
NF1
1.000 0.107 17 31169910 frameshift variant TTGTT/T in-del
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 34 1967 2017
dbSNP: rs28931615
rs28931615
0.756 0.214 4 1804426 missense variant C/A,T snp 3.2E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 33 1986 2016
dbSNP: rs28933068
rs28933068
0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 33 1986 2016
dbSNP: rs4647924
rs4647924
0.715 0.179 4 1801844 missense variant C/A,G,T snp 4.2E-06; 4.2E-06 3.2E-05; 3.2E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 33 1986 2016
dbSNP: rs796053162
rs796053162
0.923 0.071 2 165389123 missense variant G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 31 1991 2018
dbSNP: rs797044870
rs797044870
1.000 1 22086456 missense variant A/G snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 31 1993 2018
dbSNP: rs797044916
rs797044916
1 22078546 missense variant A/G snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 31 1993 2018
dbSNP: rs113001196
rs113001196
1.000 0.143 15 48432947 stop gained G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1986 2016
dbSNP: rs387906623
rs387906623
0.878 0.143 15 48460258 missense variant C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1986 2016
dbSNP: rs74315391
rs74315391
0.821 0.107 20 63444730 missense variant G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1980 2018
dbSNP: rs74315392
rs74315392
1.000 20 63442482 stop gained G/A,C,T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1980 2018
dbSNP: rs796052621
rs796052621
20 63444756 missense variant C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1980 2018
dbSNP: rs797044938
rs797044938
20 63442529 missense variant C/A,G snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1980 2018
dbSNP: rs869025411
rs869025411
1.000 0.143 15 48432911 missense variant A/G snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 29 1986 2016
dbSNP: rs1064796472
rs1064796472
SON
21 33552565 stop gained C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 28 1988 2017
dbSNP: rs886039773
rs886039773
SON
1.000 21 33554984 frameshift variant GTTAG/G in-del
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 28 1988 2017