PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
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: rs1272192
rs1272192
12 27960649 intron variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
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
dbSNP: rs267606985
rs267606985
1.000 12 27963693 missense variant A/G snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs267606985
rs267606985
1.000 12 27963693 missense variant A/G snv
CUI: C1261473
Disease: Sarcoma
Sarcoma
Neoplasms 0.010 1.000 1 2010 2010