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: rs121964904
rs121964904
AGA
4 177438764 missense variant C/G snv 7.8E-04 5.4E-04
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.840 1.000 4 1991 2016
dbSNP: rs1468326
rs1468326 		12 748335 upstream gene variant A/C;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.040 1.000 4 2005 2018
dbSNP: rs111253292
rs111253292
CORIN
4 47661743 missense variant T/G snv 4.6E-03 2.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2007 2012
dbSNP: rs11174811
rs11174811
AVPR1A
1.000 12 63146696 3 prime UTR variant C/A snv 0.12
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 0.667 3 2011 2019
dbSNP: rs1397858410
rs1397858410
CHGA
14 92932714 missense variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2007 2016
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
5 151851530 missense variant G/T snv 4.0E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.030 1.000 3 1999 2004
dbSNP: rs1801466
rs1801466
ABCA4
1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.730 1.000 3 2018 2019
dbSNP: rs1801466
rs1801466
ABCA4
1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.030 1.000 3 2018 2019
dbSNP: rs2301365
rs2301365
PRM1 ; RMI2 ; LOC105371082
16 11281429 intron variant G/T snv 0.21
CUI: C0021364
Disease: Male infertility
Male infertility 		0.030 1.000 3 2015 2018
dbSNP: rs28368082
rs28368082
SPO11
20 57335452 missense variant C/T snv 5.7E-05
CUI: C0021364
Disease: Male infertility
Male infertility 		0.030 1.000 3 2011 2017
dbSNP: rs35929607
rs35929607
STK39
2 168179226 intron variant A/G snv 0.27
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 0.667 3 2011 2016
dbSNP: rs375526265
rs375526265
APEX1
14 20457260 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2001 2017
dbSNP: rs6749447
rs6749447
STK39
2 168184876 intron variant T/G snv 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 0.667 3 2013 2018
dbSNP: rs75770792
rs75770792
CORIN
4 47661782 missense variant G/A snv 4.6E-03 2.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2007 2012
dbSNP: rs761347168
rs761347168
COASY
1.000 17 42563226 missense variant C/T snv 8.0E-06
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.030 1.000 3 2013 2017
dbSNP: rs9658667
rs9658667
CHGA
14 92932705 missense variant G/A snv 3.1E-02 2.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2007 2016
dbSNP: rs11038628
rs11038628
TRIM5
1.000 11 5667710 missense variant C/T snv 0.14 0.14
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.020 1.000 2 2013 2019
dbSNP: rs11105378
rs11105378
ATP2B1
12 89696964 intron variant C/T snv 0.15
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2010 2012
dbSNP: rs1138545
rs1138545
TNC ; DELEC1
1.000 9 115073620 missense variant C/A;T snv 0.12
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.020 1.000 2 2017 2018
dbSNP: rs1181611385
rs1181611385
MTG1
10 133394232 synonymous variant C/A;G;T snv 9.2E-06; 9.2E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2017 2017
dbSNP: rs11821102
rs11821102
CD44
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2016 2016
dbSNP: rs11821102
rs11821102
CD44
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2016 2016
dbSNP: rs11898505
rs11898505
SPTBN1
2 54457420 intron variant A/G snv 0.76
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		0.020 1.000 2 2010 2013
dbSNP: rs1201894677
rs1201894677
VEGFA
6 43770833 missense variant G/A snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2015
dbSNP: rs121434502
rs121434502
RANBP2
1.000 2 108751993 missense variant C/T snv 7.0E-06
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.020 1.000 2 2016 2017