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: rs7776054
rs7776054
HBS1L
13 6 135097778 intron variant A/G snv 0.24 0.800 1.000 4 2012 2018
dbSNP: rs2413450
rs2413450
TMPRSS6
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2012 2017
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 3 2010 2012
dbSNP: rs9924561
rs9924561
FAM234A
3 16 264781 intron variant G/A;T snv 2.9E-05; 6.5E-03 0.800 1.000 3 2013 2019
dbSNP: rs10445033
rs10445033
PIEZO1
1 16 88774054 intron variant G/A snv 0.49 0.800 1.000 2 2012 2019
dbSNP: rs1122794
rs1122794
FAM234A
2 16 259156 intron variant C/A snv 0.19 0.800 1.000 2 2012 2013
dbSNP: rs1175550
rs1175550
SMIM1
5 1 3774964 intron variant A/G snv 0.31 0.800 1.000 2 2012 2016
dbSNP: rs13008603
rs13008603
PRKCE
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 2 2012 2013
dbSNP: rs1318638
rs1318638
TRIM10
3 6 30160096 intron variant C/T snv 0.11 0.800 1.000 2 2012 2016
dbSNP: rs13335629
rs13335629
FAM234A
4 16 260381 intron variant G/A;C snv 1.1E-02 0.800 1.000 2 2013 2019
dbSNP: rs13339636
rs13339636
FAM234A
5 16 248589 intron variant A/G snv 3.8E-02 0.800 1.000 2 2013 2017
dbSNP: rs17342717
rs17342717
SLC17A1
8 6 25821542 intron variant C/T snv 6.1E-02 0.700 1.000 2 2010 2012
dbSNP: rs2022003
rs2022003
SPTA1
5 1 158617176 intron variant A/T snv 0.28 0.800 1.000 2 2012 2016
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
8 7 100642673 intron variant A/G snv 0.65 0.800 1.000 2 2012 2016
dbSNP: rs2213169
rs2213169
HBE1 ; HBG2
4 11 5281833 intron variant G/A;T snv 4.2E-02 0.700 1.000 2 2013 2019
dbSNP: rs2269906
rs2269906
UBTF ; LOC101926967
1 17 44216969 intron variant A/C snv 0.52 0.800 1.000 2 2012 2017
dbSNP: rs2608604
rs2608604
PIEZO1
1 16 88783013 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2012 2017
dbSNP: rs3804139
rs3804139
TFRC
2 3 196080754 intron variant T/C snv 0.49 0.800 1.000 2 2012 2018
dbSNP: rs4737009
rs4737009
ANK1
3 1.000 0.080 8 41772887 intron variant G/A snv 0.33 0.800 1.000 2 2012 2017
dbSNP: rs4896131
rs4896131
HBS1L
1 6 135070962 intron variant C/A snv 0.56 0.700 1.000 2 2016 2018
dbSNP: rs6459467
rs6459467
GMPR
3 6 16287961 intron variant G/A;C snv 0.800 1.000 2 2012 2016
dbSNP: rs7203560
rs7203560
NPRL3
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.700 1.000 2 2013 2019
dbSNP: rs7551442
rs7551442
ATP2B4
1 1 203685993 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs857684
rs857684
OR10Z1
2 1 158605939 intron variant C/T snv 0.24 0.800 1.000 2 2012 2017