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: rs1553263326
rs1553263326 		1.000 1 156881446 intron variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2012 2017
dbSNP: rs1553263326
rs1553263326 		1.000 1 156881446 intron variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2012 2017
dbSNP: rs10908521
rs10908521 		1 156843858 intron variant T/C snv 0.31
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs12756019
rs12756019 		1 156830120 intron variant G/A snv 0.53
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs80356674
rs80356674 		1.000 0.080 1 156873600 intron variant T/A snv 3.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs759471657
rs759471657 		1 156876418 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs370483210
rs370483210 		1.000 0.080 1 156866974 stop gained G/A;T snv 2.8E-05 2.7E-04
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs80356673
rs80356673 		1.000 0.080 1 156860959 stop gained C/A;T snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs879253889
rs879253889 		1.000 0.080 1 156868201 stop gained C/T snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121964866
rs121964866 		1.000 0.080 1 156876496 missense variant G/A;C snv 2.0E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 14 1996 2017
dbSNP: rs121964868
rs121964868 		1.000 0.080 1 156880036 missense variant C/T snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017
dbSNP: rs121964869
rs121964869 		1.000 0.080 1 156873858 missense variant A/G snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017
dbSNP: rs121964870
rs121964870 		1.000 0.080 1 156876526 missense variant A/G snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017
dbSNP: rs1324983370
rs1324983370 		1.000 0.080 1 156881562 missense variant C/T snv 8.2E-06 7.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1996 2017
dbSNP: rs144901788
rs144901788 		1.000 0.080 1 156875639 missense variant G/A snv 4.5E-04 3.9E-04
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1996 2017
dbSNP: rs369353892
rs369353892 		1.000 0.080 1 156879261 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1996 2017
dbSNP: rs80356677
rs80356677 		1.000 0.080 1 156879336 missense variant G/T snv 4.1E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017
dbSNP: rs747711259
rs747711259 		1.000 0.080 1 156868568 missense variant T/C snv 1.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 5 1999 2016
dbSNP: rs1026300967
rs1026300967 		1.000 1 156868246 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2012 2017
dbSNP: rs1026300967
rs1026300967 		1.000 1 156868246 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2012 2017
dbSNP: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs759637817
rs759637817 		1.000 0.080 1 156881532 missense variant C/T snv 1.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 3 2001 2017
dbSNP: rs778056858
rs778056858 		1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2011
dbSNP: rs775984846
rs775984846 		1.000 1 156881535 missense variant G/A;C snv 3.5E-05
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.020 1.000 2 2006 2008