Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555314736
rs1555314736 		1.000 14 21402335 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 2008 2017
dbSNP: rs1555314736
rs1555314736 		1.000 14 21402335 splice donor variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 2008 2017
dbSNP: rs1555314736
rs1555314736 		1.000 14 21402335 splice donor variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2008 2017
dbSNP: rs774152851
rs774152851 		1.000 14 21394188 frameshift variant G/-;GG delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 2008 2017
dbSNP: rs774152851
rs774152851 		1.000 14 21394188 frameshift variant G/-;GG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2008 2017
dbSNP: rs1555313219
rs1555313219 		1.000 14 21393500 stop gained C/A;T snv
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 1.000 4 2012 2016
dbSNP: rs1555313219
rs1555313219 		1.000 14 21393500 stop gained C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604 		0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604 		0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604 		0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604 		0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604 		0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604 		0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 1.000 4 2012 2016
dbSNP: rs28663442
rs28663442 		14 21453066 intron variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs78484822
rs78484822 		14 21456066 5 prime UTR variant G/A snv 1.3E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1057518651
rs1057518651 		1.000 14 21408756 missense variant G/A snv
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1131691627
rs1131691627 		1.000 14 21393692 stop gained G/A snv
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1135401763
rs1135401763 		1.000 14 21431297 frameshift variant G/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135401763
rs1135401763 		1.000 14 21431297 frameshift variant G/- del
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1331026006
rs1331026006 		1.000 14 21431459 stop gained G/A;C snv
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1454466097
rs1454466097 		1.000 14 21400605 stop gained G/A snv 7.0E-06
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1555314317
rs1555314317 		1.000 14 21400267 frameshift variant T/- delins
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1555314788
rs1555314788 		1.000 14 21402494 stop gained G/A snv
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs1566427770
rs1566427770 		1.000 14 21408477 frameshift variant A/- del
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0
dbSNP: rs397514551
rs397514551 		1.000 14 21403019 stop gained G/A snv
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 0