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: rs9833888
rs9833888
FILIP1L ; CMSS1
1 1.000 0.080 3 100004736 intron variant G/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs1190983
rs1190983
EVL
2 0.925 0.080 14 100031649 intron variant T/C snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs9837602
rs9837602
FILIP1L ; CMSS1
1 1.000 0.080 3 100105841 intron variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs181337095
rs181337095 		1 1.000 0.080 15 100366889 intergenic variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs2273802
rs2273802
WARS1 ; WDR25
2 0.925 0.080 14 100376562 5 prime UTR variant G/A snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs612683
rs612683
CDC14A ; LOC105379827
1 1.000 0.080 1 100414772 intron variant A/T snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs11292
rs11292
HIF1AN
2 0.925 0.080 10 100553850 3 prime UTR variant A/G snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs17094222
rs17094222 		3 0.925 0.080 10 100635683 intergenic variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs747097215
rs747097215
SLC12A9
1 1.000 0.080 7 100856990 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs17024926
rs17024926
NPAS2
4 0.851 0.120 2 100889540 intron variant T/C snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.040 1.000 4 2008 2012
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.050 0.600 5 2012 2018
dbSNP: rs11541353
rs11541353
NPAS2 ; NPAS2-AS1
4 0.851 0.120 2 100977729 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2008 2008
dbSNP: rs3739008
rs3739008
NPAS2
2 0.925 0.080 2 100996106 3 prime UTR variant C/T snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs500760
rs500760
PGR
3 0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29 0.010 1.000 1 2008 2008
dbSNP: rs10895054
rs10895054
PGR
2 0.925 0.080 11 101039579 intron variant A/T snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs575018
rs575018 		1 1.000 0.080 5 101043689 intergenic variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1042839
rs1042839
PGR
2 0.925 0.080 11 101051471 synonymous variant G/A snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs56103835
rs56103835
MIR323B
2 0.925 0.080 14 101056219 non coding transcript exon variant T/A;C snv 4.0E-06; 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.060 0.667 6 2002 2020
dbSNP: rs590688
rs590688
PGR
2 0.925 0.080 11 101105243 intron variant C/G snv 0.47 0.020 1.000 2 2013 2020