rs9536062
A SNP in the THSD1 gene on chromosome 13. Its most notable genotype is A;G: unaffected carrier of a non-immune hydrops fetalis mutation
- Gene
- THSD1
- Location
- Chr 1352,397,583 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadunaffected carrier of a non-immune hydrops fetalis mutation
- C;CNot ratedminor homozygote for polymorphic allele
- C;GGoodnormal
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (C;C), (C;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.
- AverageA;G 0% C;C 0% C;G 0% G;G 100%
- European ancestry (Utah)A;G 0% C;C 0% C;G 0% G;G 100%
- Han Chinese (Beijing)A;G 0% C;C 0% C;G 0% G;G 100%
- Japanese (Tokyo)A;G 0% C;C 0% C;G 0% G;G 100%
- Yoruba (Nigeria)A;G 0% C;C 0% C;G 0% G;G 100%
Related
Other THSD1 SNPs
- rs141140186C;TPossible higher risk for intracranial aneurysmVery important
- rs201805081C;TPossible higher risk for intracranial aneurysmVery important
- rs371717283A;GPossible higher risk for intracranial aneurysmVery important
- rs776400380A;GPossible higher risk for intracranial aneurysmVery important
- rs780150341A;GPossible higher risk for intracranial aneurysmVery important
Notes
From SNPedia
Notes
aka c.670C>T, p.Arg224Ter but also C>G, p.Arg224Gly the c.670C>T mutation, which in dbSNP orientation is rs9536062(A), may be a very very rare mutation reported as pathogenic by one source in ClinVar for non-immune hydrops fetalis when present in two copies the c.670C>G variant, which is rs9536062(C) in dbSNP orientation, has an allele frequency of ~5% in ExAC and a reasonable number of minor homozygotes, so it's quite likely to be benign
A;G
see rs9536062
C;C
see discussion at rs9536062
Source and license
Adapted from rs9536062 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.