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: rs145285408
rs145285408
LOC105375153
2 7 11345523 intron variant G/C snv 2.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs187281066
rs187281066
CPNE4
2 3 132157410 intron variant A/G snv 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs112409831
rs112409831
DNAJC13
2 3 132417596 5 prime UTR variant C/T snv 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs16839481
rs16839481
UBA5 ; ACAD11 ; NPHP3-ACAD11
2 3 132660153 5 prime UTR variant G/A snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs192622883
rs192622883
TMEM108
2 3 133150563 intron variant A/G snv 2.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs183511413
rs183511413
TMEM108
2 3 133330418 intron variant A/G snv 2.3E-04 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
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: rs6762719
rs6762719
TF
4 3 133761973 non coding transcript exon variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs7637997
rs7637997
RAB6B
2 3 133864120 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs187472012
rs187472012
EPHB1
2 3 134820915 intron variant A/G snv 2.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs183252871
rs183252871
EPHB1
2 3 134964503 intron variant T/C;G snv 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: rs78455250
rs78455250 		2 1 189052039 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs74138220
rs74138220
LOC105371657
2 1 189188129 intergenic variant G/A snv 3.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs12052498
rs12052498 		2 2 189497185 intergenic variant G/A snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs9813476
rs9813476
LMLN
2 3 197992314 intron variant C/T snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs183360145
rs183360145
CMAHP ; CARMIL1
2 6 25296893 intron variant T/C snv 2.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs116009877
rs116009877 		4 6 25715429 regulatory region variant G/A;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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2011 2017
dbSNP: rs78545713
rs78545713
H4C7
2 6 26248612 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13191659
rs13191659
LINC00240
4 6 27033276 intron variant C/G;T snv 0.700 1.000 1 2017 2017