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: rs999885
rs999885
MCM7 ; AP4M1
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2012 2012
dbSNP: rs144351944
rs144351944
FILIP1L ; CMSS1
1.000 0.040 3 100114095 5 prime UTR variant T/G snv 8.7E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs3760753
rs3760753
COL5A3 ; RDH8
1.000 0.040 19 10011783 upstream gene variant G/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2010 2010
dbSNP: rs9811920
rs9811920
CMSS1
1.000 0.040 3 100125449 intron variant G/A snv 0.43
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 < 0.001 1 2016 2016
dbSNP: rs2233789
rs2233789
RDH8
0.925 0.040 19 10013026 upstream gene variant C/A;T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 < 0.001 1 2010 2010
dbSNP: rs2233789
rs2233789
RDH8
0.925 0.040 19 10013026 upstream gene variant C/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2010 2010
dbSNP: rs941898
rs941898
EVL
1.000 0.040 14 100133100 intron variant G/T snv 0.81
CUI: C1456784
Disease: Paranoia
Paranoia 		0.010 1.000 1 2011 2011
dbSNP: rs1813443
rs1813443
CNTN5
1.000 0.040 11 100140279 intron variant G/A;C snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2014 2014
dbSNP: rs2862954
rs2862954
ERLIN1
0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 1.000 1 2013 2013
dbSNP: rs2862954
rs2862954
ERLIN1
0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs202247814
rs202247814
PCCA
1.000 0.080 13 100155090 missense variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.820 1.000 2 1999 2014
dbSNP: rs202247814
rs202247814
PCCA
1.000 0.080 13 100155090 missense variant G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2013 2013
dbSNP: rs796052019
rs796052019
PCCA
0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.010 1.000 1 2018 2018
dbSNP: rs796052019
rs796052019
PCCA
0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.010 1.000 1 2018 2018
dbSNP: rs7157599
rs7157599
DEGS2
0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2015 2015
dbSNP: rs7157599
rs7157599
DEGS2
0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2015 2015
dbSNP: rs7157599
rs7157599
DEGS2
0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2015 2015
dbSNP: rs17185536
rs17185536 		1.000 0.080 6 100173055 upstream gene variant C/G;T snv
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.710 1.000 1 2018 2018
dbSNP: rs148789453
rs148789453
IDUA
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.720 1.000 2 2004 2019
dbSNP: rs148789453
rs148789453
IDUA
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 1.000 2 2014 2019
dbSNP: rs148789453
rs148789453
IDUA
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.720 1.000 2 2014 2019
dbSNP: rs11531577
rs11531577
STAG3
1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2018 2018
dbSNP: rs11531577
rs11531577
STAG3
1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2018 2018
dbSNP: rs57989773
rs57989773 		1.000 0.080 6 100181202 downstream gene variant T/C snv 0.23
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.710 1.000 1 2019 2019
dbSNP: rs1324694
rs1324694
ERLIN1
0.925 0.120 10 100186688 upstream gene variant C/T snv 7.8E-02
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.010 1.000 1 2010 2010