MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Overgrowth ×
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: rs1555801973
rs1555801973 		20 10412669 frameshift variant -/T delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 1999 2016