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rs747656257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747656257(A;A)
Make rs747656257(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1399168
GeneGAMT
is asnp
is mentioned by
dbSNPrs747656257
dbSNP (classic)rs747656257
ClinGenrs747656257
ebirs747656257
HLIrs747656257
Exacrs747656257
Gnomadrs747656257
Varsomers747656257
LitVarrs747656257
Maprs747656257
PheGenIrs747656257
Biobankrs747656257
1000 genomesrs747656257
hgdprs747656257
ensemblrs747656257
geneviewrs747656257
scholarrs747656257
googlers747656257
pharmgkbrs747656257
gwascentralrs747656257
openSNPrs747656257
23andMers747656257
23andMe allrs747656257
SNPshotrs747656257
SNPdbers747656257
MSV3drs747656257
GWAS Ctlgrs747656257
Max Magnitude0
ClinVar
Risk rs747656257(A;A) rs747656257(T;T)
Alt rs747656257(A;A) rs747656257(T;T)
Reference Rs747656257(G;G)
Significance Probable-Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 0
HGVS NC_000019.9:g.1399167G>A; NC_000019.9:g.1399167G>T
CLNSRC
CLNACC RCV000353046.1, RCV000490258.1,