ZSWIM6, zinc finger SWIM-type containing 6, 57688

N. diseases: 95; N. variants: 15
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS ×
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: rs587777695
rs587777695 		0.925 0.120 5 61544156 missense variant C/T snv
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
ACROMELIC FRONTONASAL DYSOSTOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.800 1.000 2 2014 2016