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rs149391396

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
Position133671694
GeneSARDH
is asnp
is mentioned by
dbSNPrs149391396
ClinGenrs149391396
ebirs149391396
HLIrs149391396
Exacrs149391396
Varsomers149391396
Maprs149391396
PheGenIrs149391396
hapmaprs149391396
1000 genomesrs149391396
hgdprs149391396
ensemblrs149391396
gopubmedrs149391396
geneviewrs149391396
scholarrs149391396
googlers149391396
pharmgkbrs149391396
gwascentralrs149391396
openSNPrs149391396
23andMers149391396
23andMe allrs149391396
SNP Nexus

SNPshotrs149391396
SNPdbers149391396
MSV3drs149391396
GWAS Ctlgrs149391396
Max Magnitude1
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,