PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET ×
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: rs74315353
rs74315353 		0.925 0.040 1 7965425 missense variant G/C snv 7.0E-06
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.810 1.000 13 2003 2013
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 13 2003 2013
dbSNP: rs74315352
rs74315352 		0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 13 2003 2013
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.700 1.000 12 2003 2013
dbSNP: rs781600849
rs781600849 		1.000 0.040 1 7965336 frameshift variant -/T delins 7.0E-06
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.700 0