PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 ×
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: rs1555912102
rs1555912102 		1.000 X 23380132 stop gained G/A snv
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs878854360
rs878854360 		1.000 X 23393645 frameshift variant C/- delins
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs878854361
rs878854361 		1.000 X 23392961 frameshift variant C/- delins
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs879255587
rs879255587 		1.000 X 23393312 frameshift variant -/A delins
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0