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rs154623632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs154623632(AA;AA)
Make rs154623632(AA;GC)
ReferenceGRCh38 38.1/141
Chromosome17
Position28405917
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs154623632
ebirs154623632
HLIrs154623632
Exacrs154623632
Varsomers154623632
Maprs154623632
PheGenIrs154623632
hapmaprs154623632
1000 genomesrs154623632
hgdprs154623632
ensemblrs154623632
gopubmedrs154623632
geneviewrs154623632
scholarrs154623632
googlers154623632
pharmgkbrs154623632
gwascentralrs154623632
openSNPrs154623632
23andMers154623632
23andMe allrs154623632
SNP Nexus

SNPshotrs154623632
SNPdbers154623632
MSV3drs154623632
GWAS Ctlgrs154623632
Max Magnitude0
ClinVar
Risk rs154623632(AA;AA)
Alt rs154623632(AA;AA)
Reference Rs154623632(GC;GC)
Significance Pathogenic
Disease Congenital defect of folate absorption
Variation info
Gene SLC46A1
CLNDBN Congenital defect of folate absorption
Reversed 1
HGVS NC_000017.10:g.26732935_26732936delGCinsTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020949.1,