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: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
TBC1D24
0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967
TBC1D24
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs747821285
rs747821285
TBC1D24
0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs1554317931
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs587779752
rs587779752
LMBR1
0.882 0.120 7 156791474 intron variant G/A snv 7.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs606231149
rs606231149
LMBR1
0.925 0.120 7 156791547 intron variant A/G snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs606231150
rs606231150
LMBR1
0.925 0.120 7 156791137 intron variant T/C snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs606231151
rs606231151
LMBR1
0.925 0.120 7 156791255 intron variant G/C snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs606231152
rs606231152
LMBR1
0.925 0.120 7 156791581 intron variant A/G;T snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0