PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 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: rs121434397
rs121434397 		1.000 0.160 1 44827617 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 5 2004 2015
dbSNP: rs56126236
rs56126236 		0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7525308
rs7525308 		1 44827846 synonymous variant A/G snv 0.38 0.43
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2019 2019
dbSNP: rs56126236
rs56126236 		0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs587776628
rs587776628 		1.000 1 44823064 splice region variant G/A snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0