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: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 1.000 1 2008 2008
dbSNP: rs1131692034
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 0
dbSNP: rs121908120
rs121908120
WNT10A
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 0
dbSNP: rs139194636
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 0
dbSNP: rs144078282
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 0
dbSNP: rs200203460
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 0
dbSNP: rs757600616
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		0.700 0