Source: CLINVAR

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: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.900 0.974 9 1993 2018
dbSNP: rs28937594
rs28937594
CLTA ; GNE
0.925 0.160 9 36217399 missense variant A/G snv 4.0E-05 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.900 1.000 5 2001 2017
dbSNP: rs74315408
rs74315408
PRNP
0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.900 1.000 3 1990 2019
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 1.000 1 1995 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 0.975 0 2004 2020
dbSNP: rs121909210
rs121909210
TGFBI
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 0 1998 2019
dbSNP: rs121909211
rs121909211
TGFBI
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: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 1.000 0 1993 2016
dbSNP: rs121912678
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.900 1.000 0 2006 2020
dbSNP: rs12255372
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.908 0 2006 2020
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 0.895 0 2003 2017
dbSNP: rs2435357
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.900 0.923 0 2011 2019
dbSNP: rs267606982
rs267606982
PRSS1
0.742 0.120 7 142751938 missense variant GC/AT mnv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 1.000 0 1996 2012
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.900 0.981 0 1994 2020
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.900 1.000 0 1990 2019
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.900 0.933 0 1999 2019
dbSNP: rs4647924
rs4647924
FGFR3
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 0 1997 2019
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.900 1.000 0 2006 2019
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 0 1999 2019
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.900 0.979 0 1989 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
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 0 2005 2019
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.890 1.000 35 1997 2016
dbSNP: rs2070074
rs2070074
GALT
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 10 1991 2016
dbSNP: rs121912443
rs121912443
SOD1
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 9 1993 2014
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 1.000 7 1994 2017