Source: BEFREE ×
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: rs144351944
rs144351944
FILIP1L ; CMSS1
1 1.000 0.040 3 100114095 5 prime UTR variant T/G snv 8.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs7792525
rs7792525
PILRA
1 1.000 0.040 7 100374499 non coding transcript exon variant A/G snv 0.15 0.16 0.010 1.000 1 2014 2014
dbSNP: rs7890586
rs7890586 		1 1.000 0.040 X 100582827 upstream gene variant G/A snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs2073163
rs2073163
TNMD
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2009 2009
dbSNP: rs1155974
rs1155974
TNMD
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs10895322
rs10895322
MMP20
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs3752228
rs3752228
ABCA7
1 1.000 0.040 19 1041165 intron variant C/T snv 6.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1883025
rs1883025
ABCA1
4 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.740 0.600 4 2011 2018
dbSNP: rs267607017
rs267607017
RP1L1
4 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs189132250
rs189132250
BBX
1 1.000 0.040 3 107773050 synonymous variant A/G snv 2.8E-04 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs2337395
rs2337395
UNG
1 1.000 0.040 12 109096844 upstream gene variant T/C snv 0.55 0.020 1.000 2 2012 2014
dbSNP: rs56209061
rs56209061
KCTD10
1 1.000 0.040 12 109467880 intron variant G/A snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs4698775
rs4698775
MCUB
1 1.000 0.040 4 109669323 intron variant G/A;T snv 0.810 1.000 1 2013 2019
dbSNP: rs2285714
rs2285714
PLA2G12A
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.810 0.500 1 2010 2019
dbSNP: rs10033900
rs10033900
CFI
4 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.840 0.875 4 2010 2019
dbSNP: rs1435946585
rs1435946585
CFI
1 1.000 0.040 4 109761597 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1486838526
rs1486838526
CFI
1 1.000 0.040 4 109764627 missense variant A/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs141853578
rs141853578
CFI
1 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.750 1.000 5 2013 2019
dbSNP: rs61941274
rs61941274
ACAD10
2 0.827 0.160 12 111694806 intron variant G/A;T snv 0.710 1.000 1 2016 2019
dbSNP: rs151207349
rs151207349
PRKCSH
2 0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.820 0.667 2 2011 2018
dbSNP: rs3812111
rs3812111
COL10A1 ; NT5DC1
1 1.000 0.040 6 116122572 intron variant T/A snv 0.47 0.810 1.000 1 2013 2019
dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
1 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019