| 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, |