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: rs1008584
rs1008584 		1.000 0.040 7 70619708 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10234796
rs10234796 		1.000 0.040 7 70547533 intron variant G/A snv 0.28
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs10237317
rs10237317 		7 70580955 intron variant A/G snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1035010
rs1035010 		7 70133342 intron variant C/T snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs10486866
rs10486866 		1.000 0.040 7 70623670 intron variant C/T snv 0.10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs117463770
rs117463770 		1.000 0.080 7 70142523 intron variant C/G;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11764092
rs11764092 		1.000 0.080 7 70732598 intron variant T/C;G snv 0.22
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		Skin and Connective Tissue Diseases; Chemically-Induced Disorders 0.010 < 0.001 1 2017 2017
dbSNP: rs11766624
rs11766624 		7 70422099 intron variant A/G snv 0.18
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs11766624
rs11766624 		7 70422099 intron variant A/G snv 0.18
CUI: C2734068
Disease: Arm span
Arm span 		0.700 1.000 1 2012 2012
dbSNP: rs11767893
rs11767893 		7 70487201 intron variant C/G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs11772435
rs11772435 		1.000 0.040 7 70620423 intron variant C/G snv 0.48
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11972637
rs11972637 		7 70511251 intron variant G/A snv 8.2E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs12698891
rs12698891 		7 70300519 intron variant A/G snv 0.11
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs13223152
rs13223152 		7 70483255 intron variant A/G snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs13224557
rs13224557 		7 69911737 intron variant A/G snv 0.16
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs145126703
rs145126703 		1.000 0.080 7 70231757 intron variant GTTTGTTT/-;GTTT;GTTTGTTTGTTT delins
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1474368
rs1474368 		1.000 0.080 7 70242637 intron variant A/G snv 0.34
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554401434
rs1554401434 		1.000 7 69899331 frameshift variant -/GCCCC delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1554480537
rs1554480537 		1.000 7 70763073 stop gained C/T snv
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1557970
rs1557970 		1.000 0.040 7 70619903 intron variant A/G snv 0.84
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1563183469
rs1563183469 		0.925 0.120 7 70766245 missense variant A/C snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1563183469
rs1563183469 		0.925 0.120 7 70766245 missense variant A/C snv
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1563183469
rs1563183469 		0.925 0.120 7 70766245 missense variant A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0