Source: BEFREE ×
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: rs104894229
rs104894229
HRAS ; LRRC56
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs118203918
rs118203918
CILK1
5 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912823
rs121912823
CHAT
5 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2070699
rs2070699
EDN1
5 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs3088308
rs3088308
SFTPD
2 1.000 0.040 10 79938112 missense variant A/T snv 9.9E-02 6.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 1.000 1 2014 2014