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: rs1555444885
rs1555444885 		1.000 15 75400810 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1998 2016
dbSNP: rs1555444885
rs1555444885 		1.000 15 75400810 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1998 2016
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C4540398
Disease: Thick ear helices
Thick ear helices 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1836047
Disease: Long face
Long face 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2019 2019
dbSNP: rs4886696
rs4886696 		15 75372229 intron variant A/C;T snv 1.0E-05; 0.70
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4886699
rs4886699 		15 75399962 intron variant A/C;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1135401768
rs1135401768 		1.000 15 75384340 frameshift variant GT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135401768
rs1135401768 		1.000 15 75384340 frameshift variant GT/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255618
rs879255618 		1.000 15 75411696 frameshift variant -/G delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255619
rs879255619 		1.000 15 75410282 splice acceptor variant TTCT/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255620
rs879255620 		1.000 15 75400135 frameshift variant A/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255621
rs879255621 		1.000 15 75380702 stop gained G/A snv
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs886037847
rs886037847 		1.000 15 75389717 frameshift variant TC/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0