PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
Disease: BRACHYDACTYLY, TYPE E2 ×
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: rs267606985
rs267606985 		1.000 12 27963693 missense variant A/G snv
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.800 1.000 1 2010 2010
dbSNP: rs267606986
rs267606986 		1.000 12 27963741 missense variant A/G snv
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.800 1.000 1 2010 2010
dbSNP: rs267606987
rs267606987 		1.000 12 27958559 stop lost T/C snv
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 0
dbSNP: rs267606988
rs267606988 		1.000 12 27963514 stop gained T/A snv
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 0