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: rs74138220
rs74138220
LOC105371657
2 1 189188129 intergenic variant G/A snv 3.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs7637997
rs7637997
RAB6B
2 3 133864120 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs78455250
rs78455250 		2 1 189052039 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs78545713
rs78545713
H4C7
2 6 26248612 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs80215559
rs80215559
SLC17A2
3 6 25917997 intron variant T/C snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs8177248
rs8177248
TF
3 1.000 0.040 3 133760782 non coding transcript exon variant C/T snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs8177253
rs8177253
TF
3 1.000 0.040 3 133761348 non coding transcript exon variant C/T snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs9813476
rs9813476
LMLN
2 3 197992314 intron variant C/T snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs9824310
rs9824310
SCHIP1 ; IQCJ-SCHIP1
2 3 159474954 intron variant A/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs9872999
rs9872999
TF ; INHCAP
2 3 133738670 intron variant C/G;T snv 0.700 1.000 1 2015 2015