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rs149481147

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
Position133729820
GeneSARDH
is asnp
is mentioned by
dbSNPrs149481147
ebirs149481147
HLIrs149481147
Exacrs149481147
Varsomers149481147
Maprs149481147
PheGenIrs149481147
hapmaprs149481147
1000 genomesrs149481147
hgdprs149481147
ensemblrs149481147
gopubmedrs149481147
geneviewrs149481147
scholarrs149481147
googlers149481147
pharmgkbrs149481147
gwascentralrs149481147
openSNPrs149481147
23andMers149481147
23andMe allrs149481147
SNP Nexus

SNPshotrs149481147
SNPdbers149481147
MSV3drs149481147
GWAS Ctlgrs149481147
GMAF0.0004591
Max Magnitude1
rs149481147, also known as P287L, 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 rs149481147(A).

ClinVar
Risk rs149481147(A;A)
Alt rs149481147(A;A)
Reference rs149481147(G;G)
Significance Other
Disease Sarcosine dehydrogenase deficiency
Variation info
Gene SARDH
CLNDBN Sarcosine dehydrogenase deficiency
Reversed 0
HGVS NC_000009.11:g.136594942G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032644.4,