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: rs1200114
rs1200114 		1 1.000 0.080 1 169091251 intron variant G/A snv 0.75 0.700 1.000 1 2017 2017
dbSNP: rs12223324
rs12223324
GATD1
1 1.000 0.080 11 772701 intron variant A/G snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs3768617
rs3768617
LAMC1
1 1.000 0.080 1 183123365 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs784257
rs784257
LOC105372130
4 1.000 0.080 18 55729968 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs79742895
rs79742895
KANK4
1 1.000 0.080 1 62317189 intron variant T/C snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs613872
rs613872
TCF4
6 0.851 0.120 18 55543071 intron variant G/T snv 0.88 0.800 1.000 15 2010 2019