Variant (rsID / SNP)
rs7813
rs7813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GEMIN4. Location: chromosome 17, position 648,186. The table records no clinical significance for this variant.
Reference-table entries
GEMIN4Not classified
- Variant type
- missense_variant
- Chromosome / position
- 17:648186
- HGVS
- NM_015721.3,c.3097C>T,p.Arg1033Cys
- Allele change
- Missense_R1033C
Associated conditions / phenotypes
Lung Cancer Susceptibility 3|Disease by Infectious Agent|Prostatic Hypertrophy|Prostatic Hyperplasia, Benign|Renal Cell Carcinoma, Nonpapillary|Mycobacterium Tuberculosis 1|Gastric Cancer|Prostatic Adenoma|Squamous Cell Carcinoma|Ovarian Cancer|Esophageal Cancer|Hepatitis B|Malignant Peripheral Nerve Sheath Tumor|Neurofibromatosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
