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: rs121913599
rs121913599
MPZ
0.882 0.080 1 161306763 missense variant G/T snv
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 1.000 1 1999 1999
dbSNP: rs121913599
rs121913599
MPZ
0.882 0.080 1 161306763 missense variant G/T snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.700 0