rs140559739

plus

Geno	Mag	Summary
(A;A)	1	Sarcosinemia
(A;G)	1	Unaffected carrier of a sarcosinemia allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

133704962

Gene

SARDH

is a	snp
is	mentioned by
dbSNP	rs140559739
dbSNP (classic)	rs140559739
ClinGen	rs140559739
ebi	rs140559739
HLI	rs140559739
Exac	rs140559739
Gnomad	rs140559739
Varsome	rs140559739
LitVar	rs140559739
Map	rs140559739
PheGenI	rs140559739
Biobank	rs140559739
1000 genomes	rs140559739
hgdp	rs140559739
ensembl	rs140559739
geneview	rs140559739
scholar	rs140559739
google	rs140559739
pharmgkb	rs140559739
gwascentral	rs140559739
openSNP	rs140559739
23andMe	rs140559739
SNPshot	rs140559739
SNPdbe	rs140559739
MSV3d	rs140559739
GWAS Ctlg	rs140559739

Max Magnitude

1

rs140559739, also known as R514X, is a variant in the sarcosine dehydrogenase SARDH gene that has been reported to cause sarcosinemia, a condition brought about through autosomal recessive inheritance.[PMID 22825317]

In dbSNP orientation for this SNP, the variant (rare) allele is rs140559739(A).

ClinVar
Risk	Rs140559739(A;A)
Alt	Rs140559739(A;A)
Reference	Rs140559739(G;G)
Significance	Other
Disease	Sarcosine dehydrogenase deficiency
Variation	info
Gene	SARDH
CLNDBN	Sarcosine dehydrogenase deficiency
Reversed	0
HGVS	NC_000009.11:g.136570084G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032646.4,