MTPAP, mitochondrial poly(A) polymerase, 55149

N. diseases: 104; 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: rs267606900
rs267606900 		1.000 10 30313926 missense variant T/C snv 1.4E-05
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2010 2010
dbSNP: rs111797426
rs111797426 		10 30373626 intron variant T/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs267606900
rs267606900 		1.000 10 30313926 missense variant T/C snv 1.4E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2015 2015