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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.100 1.000 10 2006 2018
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.070 0.857 7 2013 2020
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 1.000 5 2010 2016
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.040 1.000 4 2013 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.040 1.000 4 2013 2019
dbSNP: rs143624519
rs143624519
MAPT
0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 0.667 3 2012 2019
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 1.000 3 2006 2016
dbSNP: rs104893768
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2002 2014
dbSNP: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2002 2003
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2002 2003
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2004 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2006 2011
dbSNP: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2006 2014
dbSNP: rs387907043
rs387907043
DNAJC5
0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2012 2015
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2014 2019
dbSNP: rs104893875
rs104893875
SNCA
0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2017 2017
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
0.925 0.080 5 70946157 missense variant A/G snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2000 2000
dbSNP: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2011 2011
dbSNP: rs1049564
rs1049564
PNP
0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2007 2007
dbSNP: rs1052553
rs1052553
MAPT
0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2017 2017
dbSNP: rs1178466848
rs1178466848
PRNP
0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2019 2019
dbSNP: rs119467003
rs119467003
TDP1
0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2007 2007
dbSNP: rs121909329
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2012 2012
dbSNP: rs121909715
rs121909715
GSN
0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2003 2003