Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894619
rs104894619
PMP22
0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		0.750 1.000 0 1998 2015
dbSNP: rs104894619
rs104894619
PMP22
0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.710 1.000 0 2000 2000
dbSNP: rs104894619
rs104894619
PMP22
0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03
CUI: C4016716
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE 		0.700 0