rs113994205
A SNP in the LOC105371492 gene on chromosome 17. Its most notable genotype is A;G: Carrier of a cystinosis mutation
- Gene
- LOC105371492
- Location
- Chr 173,655,305 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadCarrier of a cystinosis mutation
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other LOC105371492 SNPs
- rs113994208A;GCarrier of a cystinosis mutationImportant
- rs121908124G;TCarrier of a cystinosis mutationImportant
- rs121908126A;GCarrier of a cystinosis mutationImportant
- rs121908128C;GCarrier of a cystinosis mutationImportant
- rs121908129G;TCarrier of a cystinosis mutationImportant
- rs267606754C;TCarrier of a cystinosis mutationImportant
- rs161400C;Ccommon in clinvarTypical
Notes
From SNPedia
Notes
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
A;G
Unaffected in absence of a second CTNS gene mutation
Source and license
Adapted from rs113994205 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.