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: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 16 1989 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
0.800 5 2003 2014
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis
0.800 5 2003 2014
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.800 5 2003 2014
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 6 1988 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.710 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.710 1.000 1 1997 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 10 1984 2015
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 8 2006 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.700 5 2003 2014
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
Transitional cell carcinoma of bladder
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
0.700 1 2016 2016
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.700 1 2016 2016