PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Thyroid Neoplasm ×
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: rs1365943053
rs1365943053 		0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs779791579
rs779791579 		0.882 0.080 9 95508325 missense variant G/C snv 7.8E-04 6.1E-04
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015