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rs571038432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a methylmalonic aciduria type cblA mutation
Make rs571038432(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position145655165
GeneMMAA
is asnp
is mentioned by
dbSNPrs571038432
dbSNP (classic)rs571038432
ClinGenrs571038432
ebirs571038432
HLIrs571038432
Exacrs571038432
Gnomadrs571038432
Varsomers571038432
LitVarrs571038432
Maprs571038432
PheGenIrs571038432
Biobankrs571038432
1000 genomesrs571038432
hgdprs571038432
ensemblrs571038432
geneviewrs571038432
scholarrs571038432
googlers571038432
pharmgkbrs571038432
gwascentralrs571038432
openSNPrs571038432
23andMers571038432
SNPshotrs571038432
SNPdbers571038432
MSV3drs571038432
GWAS Ctlgrs571038432
Max Magnitude3
ClinVar
Risk rs571038432(T;T)
Alt rs571038432(T;T)
Reference Rs571038432(C;C)
Significance Pathogenic
Disease not provided Methylmalonic aciduria cblA type
Variation info
Gene MMAA
CLNDBN not provided Methylmalonic aciduria cblA type
Reversed 0
HGVS NC_000004.11:g.146576317C>T
CLNSRC
CLNACC RCV000186014.2, RCV000203343.1,