Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555728965
rs1555728965
NOTCH3
4 0.925 0.080 19 15188277 missense variant A/C snv 0.700 0
dbSNP: rs797045014
rs797045014
NOTCH3
4 0.851 0.160 19 15192182 missense variant G/A;T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 1999 1999
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2016 2016
dbSNP: rs17782313
rs17782313 		34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs2229616
rs2229616
MC4R
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs9937053
rs9937053
FTO
6 0.882 0.160 16 53765595 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011