Disease: HSAN Type IV ×
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: 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: 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: 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: 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: 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: 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: 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