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: rs875989846
rs875989846 		0.925 0.080 8 30612400 missense variant C/G snv
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		0.800 0
dbSNP: rs875989847
rs875989847 		0.925 0.080 8 30607141 missense variant C/A snv
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		0.800 0
dbSNP: rs2978277
rs2978277 		8 30612300 missense variant T/C snv 3.3E-03 3.1E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs875989846
rs875989846 		0.925 0.080 8 30612400 missense variant C/G snv
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs875989847
rs875989847 		0.925 0.080 8 30607141 missense variant C/A snv
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016