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rs7418956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs7418956(G;T)
Make rs7418956(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158662793
GeneSPTA1
is asnp
is mentioned by
dbSNPrs7418956
ebirs7418956
HLIrs7418956
Exacrs7418956
Varsomers7418956
Maprs7418956
PheGenIrs7418956
hapmaprs7418956
1000 genomesrs7418956
hgdprs7418956
ensemblrs7418956
gopubmedrs7418956
geneviewrs7418956
scholarrs7418956
googlers7418956
pharmgkbrs7418956
gwascentralrs7418956
openSNPrs7418956
23andMers7418956
23andMe allrs7418956
SNP Nexus

SNPshotrs7418956
SNPdbers7418956
MSV3drs7418956
GWAS Ctlgrs7418956
GMAF0.0124
Max Magnitude0
OMIM182860
DescELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
Variant0018
Relatedalso
? (G;G) (G;T)
ClinVar
Risk rs7418956(T;T)
Alt rs7418956(T;T)
Reference rs7418956(G;G)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 0
HGVS NC_000001.10:g.158632583G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013717.18,


GET Evidence
SPTA1-D791E
aa_change Asp791Glu
aa_change_short D791E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0145749
summary