ADPRS, ADP-ribosylserine hydrolase, 54936

N. diseases: 30; N. variants: 9
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: rs200626873
rs200626873
1.000 1 36091923 missense variant C/T snv 4.1E-06
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.800 1.000 2 2018 2018
dbSNP: rs201735454
rs201735454
1.000 1 36093298 missense variant T/C;G snv 8.4E-05
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.800 1.000 2 2018 2018
dbSNP: rs1557732234
rs1557732234
1.000 1 36089004 missense variant G/A snv
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.700 0
dbSNP: rs1557733311
rs1557733311
1.000 1 36091267 missense variant A/C snv
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.700 0
dbSNP: rs1557733367
rs1557733367
1.000 1 36091323 frameshift variant G/- delins
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.700 0
dbSNP: rs1557733597
rs1557733597
1.000 1 36091721 frameshift variant TGCCC/- delins
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.700 0
dbSNP: rs1557734377
rs1557734377
1.000 1 36093294 stop gained C/T snv
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.700 0
dbSNP: rs368433666
rs368433666
1.000 1 36091625 stop gained C/G;T snv 2.1E-05; 8.3E-06
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.700 0
dbSNP: rs142723316
rs142723316
1.000 0.040 1 36086984 missense variant C/G;T snv 4.0E-06; 7.0E-04
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
Male Urogenital Diseases 0.010 1.000 1 2008 2008