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: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
Transitional cell carcinoma of bladder
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
Malignant neoplasm of urinary bladder
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
0.700 0
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.710 1.000 0 2019 2019
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
0.700 0