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rs387906566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906566(-;-)
Make rs387906566(-;CACCCAGATG)
Make rs387906566(CACCCAGATG;CACCCAGATG)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251435
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs387906566
ebirs387906566
HLIrs387906566
Exacrs387906566
Varsomers387906566
Maprs387906566
PheGenIrs387906566
hapmaprs387906566
1000 genomesrs387906566
hgdprs387906566
ensemblrs387906566
gopubmedrs387906566
geneviewrs387906566
scholarrs387906566
googlers387906566
pharmgkbrs387906566
gwascentralrs387906566
openSNPrs387906566
23andMers387906566
23andMe allrs387906566
SNP Nexus

SNPshotrs387906566
SNPdbers387906566
MSV3drs387906566
GWAS Ctlgrs387906566
Max Magnitude0
ClinVar
Risk rs387906566(CACCCAGATG;CACCCAGATG)
Alt rs387906566(CACCCAGATG;CACCCAGATG)
Reference rs387906566(;)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42328803_42328804insCATCTGGGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000019335.28,