BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Hydrometrocolpos ×
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: rs886039797
rs886039797 		0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		Female Urogenital Diseases and Pregnancy Complications 0.700 0