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: rs724159958
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 0
dbSNP: rs724159958
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0