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: rs4682484
rs4682484
CFAP44
1 3 113304023 missense variant T/A;C snv 0.98 0.700 1.000 1 2009 2009
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.800 1.000 9 2008 2019
dbSNP: rs853789
rs853789
ABCB11
4 2 168944978 intron variant A/G;T snv 0.75 0.800 1.000 2 2012 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 5 2012 2019
dbSNP: rs1395
rs1395
SLC5A6
4 0.882 0.200 2 27201768 missense variant G/A snv 0.62 0.55 0.700 1.000 1 2015 2015
dbSNP: rs492594
rs492594
SPC25 ; G6PC2
2 1.000 0.080 2 168907666 missense variant G/C snv 0.50 0.43 0.700 1.000 1 2015 2015
dbSNP: rs2302593
rs2302593
SNRPD2 ; QPCTL
2 19 45693376 intron variant C/A;G snv 1.0E-04; 0.48 0.700 1.000 1 2012 2012
dbSNP: rs174535
rs174535
MYRF ; TMEM258
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2019 2019
dbSNP: rs11039119
rs11039119
PACSIN3 ; MIR6745
2 11 47180373 intron variant G/A snv 0.38 0.33 0.700 1.000 1 2012 2012
dbSNP: rs1124649
rs1124649
TMEM214
2 2 27037601 missense variant G/A snv 0.32 0.35 0.700 1.000 1 2012 2012
dbSNP: rs1919128
rs1919128
C2orf16
8 0.882 0.120 2 27578892 missense variant A/G snv 0.30 0.24 0.700 1.000 1 2015 2015
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs11715915
rs11715915
AMT
2 3 49417897 synonymous variant C/A;T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.700 1.000 1 2015 2015
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
8 0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23 0.700 1.000 1 2013 2013
dbSNP: rs2280231
rs2280231
NDUFS3 ; KBTBD4
2 11 47578886 5 prime UTR variant C/T snv 0.24 0.20 0.700 1.000 1 2012 2012
dbSNP: rs3749147
rs3749147
GPN1 ; CCDC121
8 0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20 0.700 1.000 1 2015 2015
dbSNP: rs11672660
rs11672660
GIPR ; MIR642B
5 19 45676926 intron variant C/T snv 0.18 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2657879
rs2657879
GLS2 ; SPRYD4
9 1.000 0.080 12 56471554 missense variant A/G snv 0.17 0.15 0.700 1.000 1 2012 2012
dbSNP: rs17265513
rs17265513
ZHX3
6 0.925 0.160 20 41203988 missense variant T/C snv 0.14 0.14 0.800 1.000 2 2012 2015
dbSNP: rs35742417
rs35742417
RREB1
2 1.000 0.080 6 7247111 missense variant C/A;G;T snv 0.13; 3.0E-04; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs11571943
rs11571943
CDC5L
1 6 44403953 synonymous variant T/C snv 2.1E-02 2.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs10305492
rs10305492
GLP1R ; LOC105375046
2 1.000 0.080 6 39079018 missense variant G/A snv 1.0E-02 1.1E-02 0.700 1.000 2 2015 2015
dbSNP: rs2232326
rs2232326
SPC25 ; G6PC2
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.800 1.000 11 2009 2019