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: rs111033570
rs111033570
TRIM32 ; ASTN2
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		0.820 1.000 3 2002 2011
dbSNP: rs111033571
rs111033571
TRIM32 ; ASTN2
0.925 0.120 9 116698130 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.800 1.000 0 2006 2006
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 4 2002 2013
dbSNP: rs759376012
rs759376012
TRIM32 ; ASTN2
1.000 0.120 9 116698849 frameshift variant A/- delins 1.6E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs111033571
rs111033571
TRIM32 ; ASTN2
0.925 0.120 9 116698130 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs3747835
rs3747835
TRIM32 ; ASTN2
1.000 0.120 9 116698964 missense variant C/T snv 1.5E-03 1.1E-03
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.700 0
dbSNP: rs747685252
rs747685252
TRIM32 ; ASTN2
9 116698433 frameshift variant G/- del 2.4E-05 7.0E-06
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0
dbSNP: rs886044913
rs886044913
TRIM32 ; ASTN2
9 116699102 frameshift variant -/TA delins
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0