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: rs13266634
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 0.973 0 2007 2019
dbSNP: rs4402960
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 0.977 0 2007 2018
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 1.000 42 1999 2017
dbSNP: rs28942074
rs28942074
ATP7B
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.900 0.984 32 1995 2020
dbSNP: rs77931234
rs77931234
ACADM
0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.900 1.000 32 1990 2020
dbSNP: rs78655421
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.985 31 1992 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
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 30 1996 2019
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.900 1.000 23 2005 2018
dbSNP: rs28940578
rs28940578
MEFV
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 23 1997 2017
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 23 1987 2019
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 0.989 22 1984 2019
dbSNP: rs28940579
rs28940579
MEFV
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 20 1997 2019
dbSNP: rs61752717
rs61752717
MEFV
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 20 1997 2020
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.900 1.000 16 1993 2019
dbSNP: rs75391579
rs75391579
GALT
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 15 1991 2018
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.900 0.977 14 1990 2020
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.980 13 1990 2020
dbSNP: rs111033566
rs111033566
PRSS1
0.742 0.280 7 142750600 missense variant A/C;T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 1.000 12 1996 2015
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.900 0.974 12 1994 2019
dbSNP: rs5742904
rs5742904
APOB
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 11 1989 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
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 11 2005 2019
dbSNP: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 10 1998 2019
dbSNP: rs80034486
rs80034486
CFTR
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.966 10 1990 2019
dbSNP: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 1.000 9 1991 2019
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 9 1998 2019