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rs137852829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852829(G;T)
Make rs137852829(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position41672445
GeneANK1
is asnp
is mentioned by
dbSNPrs137852829
dbSNP (classic)rs137852829
ClinGenrs137852829
ebirs137852829
HLIrs137852829
Exacrs137852829
Gnomadrs137852829
Varsomers137852829
LitVarrs137852829
Maprs137852829
PheGenIrs137852829
Biobankrs137852829
1000 genomesrs137852829
hgdprs137852829
ensemblrs137852829
geneviewrs137852829
scholarrs137852829
googlers137852829
pharmgkbrs137852829
gwascentralrs137852829
openSNPrs137852829
23andMers137852829
SNPshotrs137852829
SNPdbers137852829
MSV3drs137852829
GWAS Ctlgrs137852829
Max Magnitude0
OMIM612641
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852829(T;T)
Alt rs137852829(T;T)
Reference Rs137852829(G;G)
Significance Pathogenic
Disease Spherocytosis type 1
Variation info
Gene ANK1
CLNDBN Spherocytosis type 1
Reversed 1
HGVS NC_000008.10:g.41529963C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000535.3,