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
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
Malignant neoplasm of urinary bladder
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2
0.700 0
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 5 2007 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
Squamous cell carcinoma of the head and neck
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.710 1.000 1 2011 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
Papillary renal cell carcinoma, sporadic
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.700 1.000 1 2016 2016