RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 ×
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: rs1554263326
rs1554263326 		1.000 7 6387229 missense variant G/A snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554263624
rs1554263624 		0.925 0.120 7 6391932 missense variant A/G snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554263625
rs1554263625 		1.000 7 6391967 missense variant G/A;C snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554263626
rs1554263626 		1.000 7 6392006 missense variant T/G snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554264268
rs1554264268 		0.925 0.120 7 6402337 missense variant G/A snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017