Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 ×
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: rs767713084
rs767713084 		1.000 18 36156574 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.800 0
dbSNP: rs773432002
rs773432002 		1.000 18 36142309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.800 0
dbSNP: rs371310428
rs371310428 		1.000 18 36156575 missense variant G/A;T snv 1.6E-05
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.700 0
dbSNP: rs772450541
rs772450541 		1.000 18 36159990 missense variant A/C;G snv
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.700 0