Source: CURATED

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: rs121913601
rs121913601
MPZ
0.851 0.080 1 161307259 missense variant G/A;C snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.810 1.000 27 1993 2008
dbSNP: rs121913601
rs121913601
MPZ
0.851 0.080 1 161307259 missense variant G/A;C snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 5 1994 2008
dbSNP: rs121913601
rs121913601
MPZ
0.851 0.080 1 161307259 missense variant G/A;C snv
CUI: C4016266
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS 		0.700 0