Have questions? Visit https://www.reddit.com/r/SNPedia

rs538023671

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs538023671(C;G)
Make rs538023671(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position45508982
GeneMMACHC
is asnp
is mentioned by
dbSNPrs538023671
dbSNP (old)rs538023671
ClinGenrs538023671
ebirs538023671
HLIrs538023671
Exacrs538023671
Gnomadrs538023671
Varsomers538023671
Maprs538023671
PheGenIrs538023671
Biobankrs538023671
1000 genomesrs538023671
hgdprs538023671
ensemblrs538023671
gopubmedrs538023671
geneviewrs538023671
scholarrs538023671
googlers538023671
pharmgkbrs538023671
gwascentralrs538023671
openSNPrs538023671
23andMers538023671
23andMe allrs538023671
SNPshotrs538023671
SNPdbers538023671
MSV3drs538023671
GWAS Ctlgrs538023671
Max Magnitude0
ClinVar
Risk rs538023671(G;G) rs538023671(T;T)
Alt rs538023671(G;G) rs538023671(T;T)
Reference Rs538023671(C;C)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria
Reversed 0
HGVS NC_000001.10:g.45974654C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000490478.1,