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rs786204035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs786204035(GT;GT)
Make rs786204035(GT;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11790853
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204035
dbSNP (classic)rs786204035
ClinGenrs786204035
ebirs786204035
HLIrs786204035
Exacrs786204035
Gnomadrs786204035
Varsomers786204035
LitVarrs786204035
Maprs786204035
PheGenIrs786204035
Biobankrs786204035
1000 genomesrs786204035
hgdprs786204035
ensemblrs786204035
geneviewrs786204035
scholarrs786204035
googlers786204035
pharmgkbrs786204035
gwascentralrs786204035
openSNPrs786204035
23andMers786204035
SNPshotrs786204035
SNPdbers786204035
MSV3drs786204035
GWAS Ctlgrs786204035
Max Magnitude0
ClinVar
Risk rs786204035(GT;GT)
Alt rs786204035(GT;GT)
Reference Rs786204035(TG;TG)
Significance Pathogenic
Disease Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocysteinemia due to MTHFR deficiency
Reversed 1
HGVS NC_000001.10:g.11850910_11850911delCAinsAC
CLNSRC
CLNACC RCV000167623.1,