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rs1057519077

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519077(A;A)
Make rs1057519077(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position43769804
GeneKCNN4
is asnp
is mentioned by
dbSNPrs1057519077
dbSNP (old)rs1057519077
ClinGenrs1057519077
ebirs1057519077
HLIrs1057519077
Exacrs1057519077
Gnomadrs1057519077
Varsomers1057519077
Maprs1057519077
PheGenIrs1057519077
Biobankrs1057519077
1000 genomesrs1057519077
hgdprs1057519077
ensemblrs1057519077
gopubmedrs1057519077
geneviewrs1057519077
scholarrs1057519077
googlers1057519077
pharmgkbrs1057519077
gwascentralrs1057519077
openSNPrs1057519077
23andMers1057519077
23andMe allrs1057519077
SNP Nexus

SNPshotrs1057519077
SNPdbers1057519077
MSV3drs1057519077
GWAS Ctlgrs1057519077
Max Magnitude0
ClinVar
Risk rs1057519077(A;A)
Alt rs1057519077(A;A)
Reference Rs1057519077(T;T)
Significance Pathogenic
Disease Dehydrated hereditary stomatocytosis 2
Variation info
Gene KCNN4
CLNDBN Dehydrated hereditary stomatocytosis 2
Reversed 1
HGVS NC_000019.9:g.44273956A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412652.1,