Source: CLINVAR

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: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs369160589
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs869312713
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 2 2012 2015
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2016 2016
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2018 2018
dbSNP: rs1563183492
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1555639076
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017
dbSNP: rs782736894
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017
dbSNP: rs878853160
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs121434341
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1555493029
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1555497604
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs886039905
rs886039905
COL6A2
0.882 0.240 21 46125854 frameshift variant -/T delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs141970897
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2020 2020