rs149391396

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

133671694

Gene

SARDH

is a	snp
is	mentioned by
dbSNP	rs149391396
dbSNP (classic)	rs149391396
ClinGen	rs149391396
ebi	rs149391396
HLI	rs149391396
Exac	rs149391396
Gnomad	rs149391396
Varsome	rs149391396
LitVar	rs149391396
Map	rs149391396
PheGenI	rs149391396
Biobank	rs149391396
1000 genomes	rs149391396
hgdp	rs149391396
ensembl	rs149391396
geneview	rs149391396
scholar	rs149391396
google	rs149391396
pharmgkb	rs149391396
gwascentral	rs149391396
openSNP	rs149391396
23andMe	rs149391396
SNPshot	rs149391396
SNPdbe	rs149391396
MSV3d	rs149391396
GWAS Ctlg	rs149391396

Max Magnitude

1

rs149391396, also known as R723X, 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 rs149391396(A).

ClinVar
Risk	Rs149391396(A;A)
Alt	Rs149391396(A;A)
Reference	Rs149391396(G;G)
Significance	Other
Disease	Sarcosine dehydrogenase deficiency
Variation	info
Gene	SARDH
CLNDBN	Sarcosine dehydrogenase deficiency
Reversed	0
HGVS	NC_000009.11:g.136536816G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032645.4,