TULP3, TUB like protein 3, 7289

N. diseases: 22; N. variants: 2
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: rs10848737
rs10848737
12 2911478 intron variant A/C;G;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs140887418
rs140887418
0.925 0.080 12 2887992 stop gained C/T snv 1.3E-03 1.7E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs140887418
rs140887418
0.925 0.080 12 2887992 stop gained C/T snv 1.3E-03 1.7E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014