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rs28937908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 1 no call
(T;T) 0 common in clinvar
Make rs28937908(C;C)
Make rs28937908(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position83899263
GeneMLYCD
is asnp
is mentioned by
dbSNPrs28937908
ebirs28937908
HLIrs28937908
Exacrs28937908
Varsomers28937908
Maprs28937908
PheGenIrs28937908
hapmaprs28937908
1000 genomesrs28937908
hgdprs28937908
ensemblrs28937908
gopubmedrs28937908
geneviewrs28937908
scholarrs28937908
googlers28937908
pharmgkbrs28937908
gwascentralrs28937908
openSNPrs28937908
23andMers28937908
23andMe allrs28937908
SNP Nexus

SNPshotrs28937908
SNPdbers28937908
MSV3drs28937908
GWAS Ctlgrs28937908
Max Magnitude1
OMIM606761
DescMALONYL-CoA DECARBOXYLASE DEFICIENCY
Variant0006
Relatedalso


ClinVar
Risk rs28937908(C;C)
Alt rs28937908(C;C)
Reference rs28937908(T;T)
Significance Pathogenic
Disease Deficiency of malonyl-CoA decarboxylase
Variation info
Gene MLYCD
CLNDBN Deficiency of malonyl-CoA decarboxylase
Reversed 0
HGVS NC_000016.9:g.83932868T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004275.2,