TRIM2, tripartite motif containing 2, 23321

N. diseases: 44; N. variants: 6
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R ×
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: rs587777063
rs587777063 		1.000 4 153294460 missense variant A/T snv
CUI: C3809655
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R 		0.800 1.000 1 2013 2013
dbSNP: rs879253863
rs879253863 		0.925 0.160 4 153324126 missense variant A/C snv
CUI: C3809655
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R 		0.700 1.000 2 2015 2015
dbSNP: rs587777838
rs587777838 		1.000 4 153315997 frameshift variant A/- delins
CUI: C3809655
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R 		0.700 0
dbSNP: rs746386202
rs746386202 		1.000 4 153295323 stop gained C/A;T snv 4.3E-06
CUI: C3809655
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R 		0.700 0