Gene: CHAT ×
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: rs3810950
rs3810950
CHAT
3 0.882 0.080 10 49616573 missense variant G/A snv 0.21 0.18 0.070 0.857 7 2005 2018
dbSNP: rs1880676
rs1880676
CHAT
2 0.925 0.120 10 49616071 missense variant G/A snv 0.21 0.18 0.030 1.000 3 2011 2016
dbSNP: rs2177369
rs2177369
CHAT
1 1.000 0.080 10 49635683 intron variant G/A snv 0.31 0.030 1.000 3 2016 2016
dbSNP: rs868750
rs868750
CHAT
1 1.000 0.080 10 49625793 intron variant G/A snv 0.13 0.020 1.000 2 2016 2016
dbSNP: rs1455460144
rs1455460144
CHAT
1 1.000 0.080 10 49625580 frameshift variant A/- del 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2177370
rs2177370
CHAT
1 1.000 0.080 10 49630828 intron variant A/G snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs3793790
rs3793790
CHAT
2 0.925 0.120 10 49632690 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs733722
rs733722
CHAT ; SLC18A3
1 1.000 0.080 10 49608897 upstream gene variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs772659997
rs772659997
CHAT
4 0.882 0.120 10 49619853 synonymous variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs8178990
rs8178990
CHAT
2 0.925 0.120 10 49622125 missense variant C/T snv 4.7E-02 4.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs868749
rs868749
CHAT
1 1.000 0.080 10 49625616 missense variant C/G;T snv 8.7E-04 0.010 1.000 1 2003 2003