SNIP1, Smad nuclear interacting protein 1, 79753

N. diseases: 45; N. variants: 2
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: rs387906986
rs387906986 		1.000 1 37537842 missense variant T/C snv 7.7E-05
CUI: C3281055
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		0.800 1.000 1 2012 2012
dbSNP: rs202020647
rs202020647 		1.000 0.040 1 37540752 missense variant G/A snv 1.8E-04 1.3E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018