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: rs117353193
rs117353193
TCN2
0.925 0.080 22 30614430 missense variant G/A snv 7.1E-04 3.1E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.710 1.000 1 2018 2018
dbSNP: rs2107595
rs2107595 		0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.710 1.000 1 2018 2018
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.710 1.000 1 2018 2018
dbSNP: rs9916351
rs9916351
RNF213
0.925 0.080 17 80265733 intron variant T/C snv 0.53
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.710 1.000 1 2018 2018
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.100 0.925 40 2011 2020
dbSNP: rs148731719
rs148731719
RNF213 ; RNF213-AS1
0.882 0.080 17 80376310 missense variant G/A snv 1.0E-02 7.9E-03
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 0.750 4 2012 2019
dbSNP: rs11273543
rs11273543 		0.925 0.080 21 22419777 intron variant G/A snv
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2017 2017
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2014 2014
dbSNP: rs138130613
rs138130613
RNF213 ; RNF213-AS1
1.000 0.080 17 80389234 missense variant C/T snv 3.2E-04 1.2E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2017 2017
dbSNP: rs1535045
rs1535045
CD40
0.742 0.360 20 46119460 intron variant C/A;G;T snv
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2019 2019
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2014 2014
dbSNP: rs1800471
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 < 0.001 1 2012 2012
dbSNP: rs199580307
rs199580307
TGIF1
0.882 0.160 18 3457498 missense variant T/C snv 2.6E-04 1.1E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2006 2006
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2012 2012
dbSNP: rs3025058
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 < 0.001 1 2013 2013
dbSNP: rs35857561
rs35857561
MRVI1
0.925 0.160 11 10628820 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2018 2018
dbSNP: rs371441113
rs371441113
RNF213 ; RNF213-AS1
1.000 0.080 17 80386819 missense variant G/A;C snv 4.0E-06; 2.4E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2017 2017
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2012 2012
dbSNP: rs3828610
rs3828610
PDGFRB
0.882 0.160 5 150156062 upstream gene variant A/C snv 0.49
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 < 0.001 1 2013 2013
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.752 0.280 10 88941309 missense variant C/T snv
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2014 2014
dbSNP: rs4813003
rs4813003 		0.882 0.160 20 46134645 downstream gene variant C/A;T snv 0.19
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2019 2019
dbSNP: rs766734961
rs766734961
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.851 0.160 10 88939548 missense variant C/A;T snv 4.0E-06
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.010 1.000 1 2012 2012