rs9536062

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

52397583

Gene

THSD1

is a	snp
is	mentioned by
dbSNP	rs9536062
dbSNP (classic)	rs9536062
ClinGen	rs9536062
ebi	rs9536062
HLI	rs9536062
Exac	rs9536062
Gnomad	rs9536062
Varsome	rs9536062
LitVar	rs9536062
Map	rs9536062
PheGenI	rs9536062
Biobank	rs9536062
1000 genomes	rs9536062
hgdp	rs9536062
ensembl	rs9536062
geneview	rs9536062
scholar	rs9536062
google	rs9536062
pharmgkb	rs9536062
gwascentral	rs9536062
openSNP	rs9536062
23andMe	rs9536062
SNPshot	rs9536062
SNPdbe	rs9536062
MSV3d	rs9536062
GWAS Ctlg	rs9536062

Max Magnitude

3

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 26036949 ]

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;A) Rs9536062(C;C)
Alt	rs9536062(A;A) Rs9536062(C;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,