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rs757679761

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs757679761(-;AAC)
Make rs757679761(AAC;AAC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position158681595
GeneSPTA1
is asnp
is mentioned by
dbSNPrs757679761
ClinGenrs757679761
ebirs757679761
HLIrs757679761
Exacrs757679761
Varsomers757679761
Maprs757679761
PheGenIrs757679761
hapmaprs757679761
1000 genomesrs757679761
hgdprs757679761
ensemblrs757679761
gopubmedrs757679761
geneviewrs757679761
scholarrs757679761
googlers757679761
pharmgkbrs757679761
gwascentralrs757679761
openSNPrs757679761
23andMers757679761
23andMe allrs757679761
SNP Nexus

SNPshotrs757679761
SNPdbers757679761
MSV3drs757679761
GWAS Ctlgrs757679761
Max Magnitude0
ClinVar
Risk rs757679761(CAA;CAA)
Alt rs757679761(CAA;CAA)
Reference Rs757679761(;)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 0
HGVS NC_000001.10:g.158651386_158651388dupCAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000013700.18,