rs364897

A SNP in the GBA gene on chromosome 1. Its most notable genotype is C;C: Homozygous for N188S variant of GBA gene

Gene
GBA
Location
Chr 1155,238,215 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodUnaffected GenotypeTypical · 0.08% of people
  2. C;TNot ratedN188S variant of the GBA geneTypical · 0.545% of people
  3. C;CMost notableNot ratedHomozygous for N188S variant of GBA geneMinor · 1.047% of people

SNPedia records rs364897 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageT;T 8% C;T 45% C;C 47%
  • European ancestry (Utah)T;T 13% C;T 59% C;C 28%
  • Han Chinese (Beijing)T;T 5% C;T 30% C;C 65%
  • Japanese (Tokyo)T;T 0% C;T 33% C;C 68%
  • Yoruba (Nigeria)T;T 16% C;T 58% C;C 26%

Other GBA SNPs

All GBA SNPs

Notes

From SNPedia

Notes

rs364897, also known as c.680A>G, Asn188Ser or N188S, is a variant in the GBA gene which has been associated with Gaucher's Disease. rs364897(G;G) has been observed in Korean and Taiwanese subjects with type I Gaucher disease. It may be a relatively mild defect in the gene, since the encoded enzyme appears to retain most of its function.

Source and license

Adapted from rs364897 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.