KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 ×
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: rs879255556
rs879255556 		0.925 0.200 7 23167919 missense variant T/A snv
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 1.000 1 2016 2016
dbSNP: rs879255558
rs879255558 		0.925 0.200 7 23165876 missense variant G/A snv
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 1.000 1 2016 2016
dbSNP: rs780705654
rs780705654 		0.925 0.200 7 23167916 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 0
dbSNP: rs1554289078
rs1554289078 		0.925 0.080 7 23140945 splice donor variant G/A snv
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.700 0
dbSNP: rs879255557
rs879255557 		0.925 0.200 7 23165780 frameshift variant T/- delins
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.700 0