Disease: SIFRIM-HITZ-WEISS SYNDROME ×
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: rs201992075
rs201992075 		1.000 12 6581131 missense variant C/G;T snv 4.0E-06; 3.6E-05 4.9E-05
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039915
rs886039915 		0.925 12 6591713 missense variant C/T snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039916
rs886039916 		1.000 12 6593191 missense variant G/T snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039917
rs886039917 		1.000 12 6588383 missense variant C/T snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039918
rs886039918 		1.000 12 6587897 missense variant C/A snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039919
rs886039919 		1.000 12 6588320 missense variant C/A snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs1060499583
rs1060499583 		1.000 12 6587518 missense variant A/C snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.700 0