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: rs1555202806
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs778431173
rs778431173
BBS10
12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013