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: 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: rs4841132
rs4841132
LOC157273
14 8 9326086 non coding transcript exon variant A/G snv 0.89 0.700 1.000 1 2017 2017
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: 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: 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: rs56071727
rs56071727
CCDC17
2 1 45625172 upstream gene variant G/T snv 9.0E-02 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: rs61740410
rs61740410
PRSS16
2 6 27256809 downstream gene variant G/A snv 4.2E-02 0.700 1.000 1 2017 2017