ClinVar
|
Risk
|
rs397516792(A;A) rs397516792(G;G) rs397516792(T;T) |
Alt
|
rs397516792(A;A) rs397516792(G;G) rs397516792(T;T) |
Reference
|
Rs397516792(C;C) |
Significance |
Pathogenic |
Disease |
Malignant neoplasm of body of uterus Malignant melanoma of skin Transitional cell carcinoma of the bladder Colorectal Neoplasms not provided Cardio-facio-cutaneous syndrome Malignant melanoma |
Variation | info |
---|
Gene |
MAP2K1 |
CLNDBN |
Malignant neoplasm of body of uterus Malignant melanoma of skin Transitional cell carcinoma of the bladder Colorectal Neoplasms not provided Cardio-facio-cutaneous syndrome Malignant melanoma |
Reversed |
0 |
HGVS |
NC_000015.9:g.66729163C>A; NC_000015.9:g.66729163C>G; NC_000015.9:g.66729163C>T |
CLNSRC |
ClinVar |
CLNACC |
RCV000418888.1, RCV000419962.1, RCV000425396.1, RCV000436127.1, RCV000413383.1, RCV000037595.2, RCV000417448.1, RCV000424633.1, RCV000425638.1, RCV000435315.1, RCV000436322.1, |