HVCN1, hydrogen voltage gated channel 1, 84329

N. diseases: 16; N. variants: 3
Disease: JOUBERT SYNDROME 13 ×
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: rs751962801
rs751962801 		1.000 12 110640437 stop gained C/T snv 8.0E-06
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.700 0
dbSNP: rs797046039
rs797046039 		1.000 12 110636501 splice donor variant G/- delins
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.700 0