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: rs149729531
rs149729531
CLCN1
0.851 0.200 7 143321432 missense variant C/G snv 1.2E-03 7.5E-04
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia 		0.800 1.000 6 1994 2016
dbSNP: rs149729531
rs149729531
CLCN1
0.851 0.200 7 143321432 missense variant C/G snv 1.2E-03 7.5E-04
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		0.700 1.000 6 1994 2016
dbSNP: rs149729531
rs149729531
CLCN1
0.851 0.200 7 143321432 missense variant C/G snv 1.2E-03 7.5E-04
CUI: C0027125
Disease: Myotonia
Myotonia 		0.700 0