Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893743
rs104893743
HYAL1
1 1.000 0.120 3 50302155 missense variant C/T snv 7.6E-05 7.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs1553713075
rs1553713075
HYAL1
1 1.000 0.120 3 50302170 splice acceptor variant GCACATACATCTGTGACTTCCCTGTGCCCTCCAGCAC/CGGGCCACACGGAA delins 0.700 0