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rs757147440

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs757147440(A;G)
Make rs757147440(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position158656669
GeneSPTA1
is asnp
is mentioned by
dbSNPrs757147440
ebirs757147440
HLIrs757147440
Exacrs757147440
Varsomers757147440
Maprs757147440
PheGenIrs757147440
hapmaprs757147440
1000 genomesrs757147440
hgdprs757147440
ensemblrs757147440
gopubmedrs757147440
geneviewrs757147440
scholarrs757147440
googlers757147440
pharmgkbrs757147440
gwascentralrs757147440
openSNPrs757147440
23andMers757147440
23andMe allrs757147440
SNP Nexus

SNPshotrs757147440
SNPdbers757147440
MSV3drs757147440
GWAS Ctlgrs757147440
Max Magnitude0
ClinVar
Risk rs757147440(G;G)
Alt rs757147440(G;G)
Reference rs757147440(A;A)
Significance Pathogenic
Disease Hereditary pyropoikilocytosis
Variation info
Gene SPTA1
CLNDBN Hereditary pyropoikilocytosis
Reversed 0
HGVS NC_000001.10:g.158626459A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013721.18,