| If from 23andMe, normal genotype |
| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
If from 23andMe, normal genotype
|
| (G;T)
|
7
|
Von Hippel-Lindau syndrome mutation
|
| (T;T)
|
0
|
common in clinvar
|
If viewed in a Promethease report, and from 23andMe data, this represents an error
by 23andMe, in that they associate rs5030814 with chromosomal position GRCh37
3:10188321, whereas it is actually designated in the NIH dbSNP database as being
at position 3:10188322. At position 3:10188321, the normal genotype on the plus/fwd
strand is (G;G). That is not the normal genotype for rs5030814, however, if it is
properly annotated. If your data is not from 23andMe, feel free to contact us to
discuss this.
