Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs10850335
rs10850335
TBX5
0.925 0.200 12 114375303 intron variant T/C snv 3.1E-02
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1131690998
rs1131690998
PTCH1
0.925 0.280 9 95506484 missense variant A/C snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 < 0.001 1 2008 2008
dbSNP: rs11696257
rs11696257
LOC102724968
0.882 0.240 20 40642176 regulatory region variant C/T snv 0.36
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs121912974
rs121912974
POR
0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1285524167
rs1285524167
ABCC8
0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs1524107
rs1524107
IL6 ; IL6-AS1
0.827 0.320 7 22728600 non coding transcript exon variant C/T snv 9.4E-02
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs180349
rs180349 		0.925 0.200 11 116741111 intergenic variant A/C;T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs199472743
rs199472743
KCNQ1
0.925 0.200 11 2583439 missense variant C/G;T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2001 2001
dbSNP: rs201405525
rs201405525
DECR1
0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
0.716 0.360 15 73929861 intron variant T/C snv 0.60
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs2228145
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs228503
rs228503
ADGRL4
0.882 0.200 1 79217216 intron variant T/C snv 0.42
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs387906539
rs387906539
INSR
0.925 0.280 19 7184592 missense variant A/G snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 1991 1991
dbSNP: rs4647924
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs6065259
rs6065259
LOC102724968
0.925 0.200 20 40633339 intergenic variant G/A snv 0.38
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs6445834
rs6445834
ARHGEF3
0.925 0.200 3 56881691 intron variant T/C snv 0.64
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs763823697
rs763823697
TTC37
1.000 0.160 5 95482583 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs774353983
rs774353983
TTC37
1.000 0.160 5 95498426 stop gained A/C;G snv 6.4E-05; 4.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2015 2015