Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.830 1.000 14 1990 2017
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
0.800 0 2005 2008
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.710 1.000 1 2012 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 9 2002 2018
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 5 2007 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 2 2015 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0025202
Disease: melanoma
melanoma
0.700 1 2015 2015
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
Papillary renal cell carcinoma, sporadic
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
Squamous cell carcinoma of the head and neck
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
0.615 0.464 11 534288 missense variant C/A,G,T snp
Transitional cell carcinoma of bladder
0.700 1 2016 2016