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: rs1555103971
rs1555103971 		1.000 12 13571888 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs387906636
rs387906636 		1.000 12 13571931 missense variant G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs397514555
rs397514555 		1.000 12 13615626 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs397514556
rs397514556 		1.000 12 13611847 missense variant G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs527236034
rs527236034 		1.000 12 13616545 missense variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs672601377
rs672601377 		1.000 12 13608769 missense variant T/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs6488619
rs6488619 		12 13774962 intron variant C/A;T snv
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve 		0.800 1.000 1 2012 2012
dbSNP: rs1555103971
rs1555103971 		1.000 12 13571888 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2007 2017
dbSNP: rs797044849
rs797044849 		0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2007 2017
dbSNP: rs672601378
rs672601378 		0.882 0.040 12 13615149 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 3 2014 2017
dbSNP: rs10845779
rs10845779 		1.000 0.040 12 13457576 intron variant T/C snv 0.53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11055458
rs11055458 		1.000 0.040 12 13463601 intron variant A/G snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11055460
rs11055460 		1.000 0.040 12 13464778 intron variant C/T snv 7.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs117578877
rs117578877 		1.000 0.040 12 13528544 intron variant C/T snv 3.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs12228921
rs12228921 		1.000 0.040 12 13452980 intron variant T/C snv 7.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12369358
rs12369358 		1.000 0.040 12 13463323 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: rs138009610
rs138009610 		12 13711041 intron variant T/C snv 4.0E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs139593264
rs139593264 		12 13819716 intron variant G/A snv 1.5E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2017 2017
dbSNP: rs1457608
rs1457608 		1.000 0.040 12 13463428 intron variant A/G snv 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1457610
rs1457610 		1.000 0.040 12 13465368 intron variant A/T snv 0.42
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1477105
rs1477105 		12 13474631 intron variant A/G snv 0.46
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs16909124
rs16909124 		1.000 0.040 12 13465015 intron variant A/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17821946
rs17821946 		1.000 0.040 12 13455592 intron variant T/C snv 9.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2163895
rs2163895 		1.000 0.040 12 13455477 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017