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rs1057519076

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519076(A;A)
Make rs1057519076(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position43769805
GeneKCNN4
is asnp
is mentioned by
dbSNPrs1057519076
dbSNP (old)rs1057519076
ClinGenrs1057519076
ebirs1057519076
HLIrs1057519076
Exacrs1057519076
Gnomadrs1057519076
Varsomers1057519076
Maprs1057519076
PheGenIrs1057519076
Biobankrs1057519076
1000 genomesrs1057519076
hgdprs1057519076
ensemblrs1057519076
gopubmedrs1057519076
geneviewrs1057519076
scholarrs1057519076
googlers1057519076
pharmgkbrs1057519076
gwascentralrs1057519076
openSNPrs1057519076
23andMers1057519076
23andMe allrs1057519076
SNP Nexus

SNPshotrs1057519076
SNPdbers1057519076
MSV3drs1057519076
GWAS Ctlgrs1057519076
Max Magnitude0
ClinVar
Risk rs1057519076(A;A)
Alt rs1057519076(A;A)
Reference Rs1057519076(G;G)
Significance Pathogenic
Disease Dehydrated hereditary stomatocytosis 2
Variation info
Gene KCNN4
CLNDBN Dehydrated hereditary stomatocytosis 2
Reversed 1
HGVS NC_000019.9:g.44273957C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412590.1,