Source: BEFREE

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: rs116987552
rs116987552
PYGM
1.000 0.080 11 64759751 stop gained G/A snv 1.5E-03 1.8E-03
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		0.800 1.000 10 1993 2015
dbSNP: rs27434
rs27434
ERAP1
1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.890 1.000 9 2009 2018
dbSNP: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.780 1.000 8 1989 2019
dbSNP: rs531523381
rs531523381
SNCG ; MMRN2
1.000 0.040 10 86958785 missense variant G/C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.080 1.000 8 1999 2018
dbSNP: rs821597
rs821597
DISC1 ; TSNAX-DISC1
1.000 0.040 1 231966518 intron variant G/A snv 0.49
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.080 0.875 8 2005 2018
dbSNP: rs1564282
rs1564282
GAK
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.870 0.889 7 2009 2015
dbSNP: rs2240340
rs2240340
PADI4
1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.770 1.000 7 2008 2017
dbSNP: rs3807989
rs3807989
CAV1
1.000 0.080 7 116546187 intron variant A/G snv 0.53
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.870 0.875 7 2012 2019
dbSNP: rs121434622
rs121434622
FMR1
1.000 0.080 X 147936534 missense variant T/A snv
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.860 1.000 6 1997 2015
dbSNP: rs13078881
rs13078881
BTD
1.000 0.080 3 15645186 missense variant G/C;T snv 3.2E-02
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		0.860 0.926 6 1997 2019
dbSNP: rs151290
rs151290
KCNQ1
1.000 0.080 11 2800385 intron variant A/C snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 0.833 6 2009 2019
dbSNP: rs2283228
rs2283228
KCNQ1
1.000 0.080 11 2828300 intron variant A/C snv 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 1.000 6 2009 2017
dbSNP: rs27037
rs27037
CAST
1.000 0.040 5 96758990 intron variant T/G snv 0.72
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.760 1.000 6 2010 2018
dbSNP: rs3754777
rs3754777
STK39
1.000 0.040 2 168159404 intron variant C/T snv 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.060 0.833 6 2012 2019
dbSNP: rs6490121
rs6490121
NOS1
1.000 0.040 12 117270390 intron variant G/A snv 0.64
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.060 1.000 6 2009 2018
dbSNP: rs104894213
rs104894213
DHCR7
1.000 0.080 11 71441400 stop gained C/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.750 1.000 5 2000 2010
dbSNP: rs10859871
rs10859871 		1.000 0.040 12 95318100 intron variant A/C snv 0.37
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.850 1.000 5 2012 2017
dbSNP: rs10886471
rs10886471
GRK5
1.000 0.080 10 119389891 intron variant C/T snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 1.000 5 2013 2018
dbSNP: rs1113132
rs1113132
EXT2
1.000 0.080 11 44231853 intron variant G/C snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 0.400 5 2012 2015
dbSNP: rs1209222698
rs1209222698
CUX1
1.000 0.080 7 101916177 synonymous variant A/G snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.050 1.000 5 2004 2015
dbSNP: rs121912744
rs121912744
SLC4A1
1.000 0.160 17 44255707 missense variant C/T snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.750 1.000 5 1998 2008
dbSNP: rs121913516
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.750 1.000 5 2004 2019
dbSNP: rs12817488
rs12817488
CCDC62
1.000 0.040 12 122811747 intron variant G/A snv 0.39
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.850 0.857 5 2011 2016
dbSNP: rs1372769622
rs1372769622
KHSRP
1.000 0.080 19 6422408 missense variant G/C snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.050 1.000 5 2004 2015
dbSNP: rs1442458912
rs1442458912
PRB1 ; PRB2
1.000 0.080 12 11393944 missense variant T/C snv 4.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.050 1.000 5 1999 2007