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: 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: 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: 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: 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: 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: rs1558104865
rs1558104865 		1.000 0.080 1 156874568 splice acceptor variant CAG/- del
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs769854785
rs769854785 		1 156871656 synonymous variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs797045059
rs797045059 		1.000 0.080 1 156866908 splice acceptor variant A/C snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1363364803
rs1363364803 		1.000 0.080 1 156876426 frameshift variant T/- del 7.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1558105252
rs1558105252 		1.000 0.080 1 156874963 frameshift variant -/TTGT delins
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs398122810
rs398122810 		1.000 0.080 1 156861141 frameshift variant TG/- del 7.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs606231466
rs606231466 		1.000 0.080 1 156868651 splice region variant 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: rs786205449
rs786205449 		1.000 0.080 1 156879262 missense variant G/A snv
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: rs80356675
rs80356675 		1.000 0.080 1 156876427 frameshift variant C/- del
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs80356676
rs80356676 		1.000 0.080 1 156879176 frameshift variant -/T ins
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: rs606231467
rs606231467 		1.000 0.080 1 156876128 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs543320028
rs543320028 		0.925 0.160 1 156864394 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0