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: rs1553190285
rs1553190285 		1.000 1 116384802 missense variant T/G snv
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.800 1.000 1 2018 2018
dbSNP: rs1553192086
rs1553192086 		1.000 1 116395224 missense variant T/C snv
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.800 1.000 1 2018 2018
dbSNP: rs1553192091
rs1553192091 		0.925 0.080 1 116395247 missense variant C/A;G snv
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.800 1.000 1 2018 2018
dbSNP: rs1553192783
rs1553192783 		1.000 1 116399068 missense variant A/C snv
CUI: C4747974
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 		0.800 1.000 1 2018 2018
dbSNP: rs1407717
rs1407717 		1 116370991 upstream gene variant T/C snv 2.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1407717
rs1407717 		1 116370991 upstream gene variant T/C snv 2.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs850610
rs850610 		1 116406090 non coding transcript exon variant G/A;C;T snv 0.49
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11540945
rs11540945 		0.925 0.080 1 116387415 missense variant T/G snv
CUI: C1706762
Disease: Aldosterone-Producing Adrenal Cortex Adenoma
Aldosterone-Producing Adrenal Cortex Adenoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs724160008
rs724160008 		1.000 0.080 1 116387401 inframe deletion TCTCAATGTTACTGT/- delins
CUI: C1706762
Disease: Aldosterone-Producing Adrenal Cortex Adenoma
Aldosterone-Producing Adrenal Cortex Adenoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs724160010
rs724160010 		1.000 0.080 1 116389679 missense variant T/G snv
CUI: C1706762
Disease: Aldosterone-Producing Adrenal Cortex Adenoma
Aldosterone-Producing Adrenal Cortex Adenoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1060366
rs1060366 		1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1060366
rs1060366 		1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11540945
rs11540945 		0.925 0.080 1 116387415 missense variant T/G snv
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11805078
rs11805078 		1.000 0.040 1 116381693 intron variant C/T snv 8.8E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1242082318
rs1242082318 		1.000 0.080 1 116399062 missense variant G/T snv 4.0E-06
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1553192091
rs1553192091 		0.925 0.080 1 116395247 missense variant C/A;G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019