RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Rothmund-Thomson syndrome ×
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: rs1564804479
rs1564804479 		1.000 0.120 8 144515873 stop gained C/T snv
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007