Source: UNIPROT

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: rs121909210
rs121909210
0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
0.900 0.969 9 1998 2019
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
Multiple Endocrine Neoplasia Type 2b
0.900 0.974 8 1994 2019
dbSNP: rs77543610
rs77543610
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 1.000 8 1995 2018
dbSNP: rs28931614
rs28931614
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 0.981 6 1994 2020
dbSNP: rs4149584
rs4149584
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
TNF receptor-associated periodic fever syndrome (TRAPS)
0.900 0.933 5 1999 2019
dbSNP: rs5742904
rs5742904
0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb
0.900 1.000 4 1989 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 0.960 4 2005 2019
dbSNP: rs121912678
rs121912678
0.851 0.080 2 157774114 missense variant C/G;T snv
Fibrodysplasia Ossificans Progressiva
0.900 1.000 3 2006 2020
dbSNP: rs4647924
rs4647924
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
0.900 0.933 3 1997 2019
dbSNP: rs5030858
rs5030858
PAH
0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.900 1.000 3 1987 2019
dbSNP: rs28940578
rs28940578
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 2 1997 2017
dbSNP: rs28940579
rs28940579
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 2 1997 2019
dbSNP: rs61752717
rs61752717
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 0.988 2 1997 2020
dbSNP: rs63751273
rs63751273
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.900 1.000 1 1998 2019
dbSNP: rs63751438
rs63751438
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.900 1.000 1 1999 2019
dbSNP: rs75391579
rs75391579
0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.900 0.962 1 1991 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 0.966 1 2005 2019
dbSNP: rs121909211
rs121909211
0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.900 1.000 0 1998 2019
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 0.976 0 1996 2019
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 0.972 0 2004 2019
dbSNP: rs121912431
rs121912431
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.890 0.969 23 1993 2012
dbSNP: rs121912443
rs121912443
0.732 0.160 21 31663857 missense variant A/G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.890 1.000 23 1993 2014
dbSNP: rs2070074
rs2070074
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.890 1.000 20 1991 2016
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
Multiple Endocrine Neoplasia Type 2a
0.890 1.000 9 1994 2017
dbSNP: rs137852769
rs137852769
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
0.890 1.000 3 1994 2017