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rs140559739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Sarcosinemia
(A;G) 1 Unaffected carrier of a sarcosinemia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position133704962
GeneSARDH
is asnp
is mentioned by
dbSNPrs140559739
ebirs140559739
HLIrs140559739
Exacrs140559739
Varsomers140559739
Maprs140559739
PheGenIrs140559739
hapmaprs140559739
1000 genomesrs140559739
hgdprs140559739
ensemblrs140559739
gopubmedrs140559739
geneviewrs140559739
scholarrs140559739
googlers140559739
pharmgkbrs140559739
gwascentralrs140559739
openSNPrs140559739
23andMers140559739
23andMe allrs140559739
SNP Nexus

SNPshotrs140559739
SNPdbers140559739
MSV3drs140559739
GWAS Ctlgrs140559739
Max Magnitude1
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,