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rs9536062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 unaffected carrier of a non-immune hydrops fetalis mutation
(C;C) 1 minor homozygote for polymorphic allele
(C;G) 0 normal
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position52397583
GeneTHSD1
is asnp
is mentioned by
dbSNPrs9536062
ebirs9536062
HLIrs9536062
Exacrs9536062
Varsomers9536062
Maprs9536062
PheGenIrs9536062
hapmaprs9536062
1000 genomesrs9536062
hgdprs9536062
ensemblrs9536062
gopubmedrs9536062
geneviewrs9536062
scholarrs9536062
googlers9536062
pharmgkbrs9536062
gwascentralrs9536062
openSNPrs9536062
23andMers9536062
23andMe allrs9536062
SNP Nexus

SNPshotrs9536062
SNPdbers9536062
MSV3drs9536062
GWAS Ctlgrs9536062
Max Magnitude3

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 [PMID 26036949OA-icon.png]

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

? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs9536062(A,C;A,C)
Alt rs9536062(A,C;A,C)
Reference rs9536062(G;G)
Significance Probable-Pathogenic
Disease Non-immune hydrops fetalis
Variation info
Gene THSD1
CLNDBN Non-immune hydrops fetalis
Reversed 0
HGVS NC_000013.10:g.52971718G>A
CLNSRC
CLNACC RCV000170586.1,