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: rs1553941580
rs1553941580
BBS12
1.000 0.120 4 122743841 stop gained C/G snv
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs745448288
rs745448288
BBS12
1.000 0.120 4 122742532 stop gained C/T snv 1.2E-05
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs769588983
rs769588983
BBS12
1.000 0.120 4 122742574 stop gained C/T snv 4.0E-06; 4.0E-06
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs587777803
rs587777803
BBS12
0.925 0.120 4 122743006 frameshift variant TT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 4 2007 2019
dbSNP: rs1553941369
rs1553941369
BBS12
0.925 0.120 4 122742900 frameshift variant GT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2007 2014
dbSNP: rs1057517193
rs1057517193
BBS12
1.000 0.120 4 122742972 frameshift variant G/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2014 2014
dbSNP: rs1173504533
rs1173504533
BBS12
1.000 0.120 4 122742160 frameshift variant T/- delins 4.0E-06
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2007 2007
dbSNP: rs1339432710
rs1339432710
BBS12
1.000 0.120 4 122742561 frameshift variant -/A delins 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1553941540
rs1553941540
BBS12
1.000 0.120 4 122743686 frameshift variant C/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2010 2010
dbSNP: rs752762669
rs752762669
BBS12
0.925 0.120 4 122743422 inframe deletion CAGATGCAA/- delins 4.0E-05 8.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1195341481
rs1195341481
BBS12
1.000 0.120 4 122743263 frameshift variant -/A delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1397714772
rs1397714772
BBS12
0.925 0.120 4 122742155 frameshift variant TT/- delins 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1397714772
rs1397714772
BBS12
0.925 0.120 4 122742155 frameshift variant TT/- delins 1.4E-05
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1553941255
rs1553941255
BBS12
1.000 0.120 4 122742306 frameshift variant ACTG/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1553941258
rs1553941258
BBS12
1.000 0.120 4 122742314 frameshift variant -/G delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1553941279
rs1553941279
BBS12
1.000 0.120 4 122742457 frameshift variant -/T delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1553941312
rs1553941312
BBS12
1.000 0.120 4 122742677 frameshift variant -/T delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1553941369
rs1553941369
BBS12
0.925 0.120 4 122742900 frameshift variant GT/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs1553941433
rs1553941433
BBS12
1.000 0.120 4 122743210 frameshift variant -/TGTGATG delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs587777801
rs587777801
BBS12
1.000 0.120 4 122742227 inframe deletion GTA/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs587777802
rs587777802
BBS12
1.000 0.120 4 122743374 frameshift variant GA/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs587777803
rs587777803
BBS12
0.925 0.120 4 122743006 frameshift variant TT/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs746478265
rs746478265
BBS12
1.000 0.120 4 122743945 frameshift variant ACAG/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs752762669
rs752762669
BBS12
0.925 0.120 4 122743422 inframe deletion CAGATGCAA/- delins 4.0E-05 8.4E-05
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs756061536
rs756061536
BBS12
1.000 0.120 4 122741940 frameshift variant -/C delins 4.0E-06
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0