EMC1-AS1, EMC1 antisense RNA 1, 101927895

N. diseases: 15; N. variants: 4
Disease: Cakut ×
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: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017