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rs74315322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315322(C;T)
Make rs74315322(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154275165
GeneHAX1
is asnp
is mentioned by
dbSNPrs74315322
ebirs74315322
HLIrs74315322
Exacrs74315322
Varsomers74315322
Maprs74315322
PheGenIrs74315322
hapmaprs74315322
1000 genomesrs74315322
hgdprs74315322
ensemblrs74315322
gopubmedrs74315322
geneviewrs74315322
scholarrs74315322
googlers74315322
pharmgkbrs74315322
gwascentralrs74315322
openSNPrs74315322
23andMers74315322
23andMe allrs74315322
SNP Nexus

SNPshotrs74315322
SNPdbers74315322
MSV3drs74315322
GWAS Ctlgrs74315322
Max Magnitude0
OMIM605998
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315322(T;T)
Alt rs74315322(T;T)
Reference rs74315322(C;C)
Significance Pathogenic
Disease Severe congenital neutropenia 3
Variation info
Gene HAX1
CLNDBN Severe congenital neutropenia 3, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.154247641C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004913.2,