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rs121908165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908165(C;T)
Make rs121908165(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154273538
GeneHAX1
is asnp
is mentioned by
dbSNPrs121908165
ebirs121908165
HLIrs121908165
Exacrs121908165
Varsomers121908165
Maprs121908165
PheGenIrs121908165
hapmaprs121908165
1000 genomesrs121908165
hgdprs121908165
ensemblrs121908165
gopubmedrs121908165
geneviewrs121908165
scholarrs121908165
googlers121908165
pharmgkbrs121908165
gwascentralrs121908165
openSNPrs121908165
23andMers121908165
23andMe allrs121908165
SNP Nexus

SNPshotrs121908165
SNPdbers121908165
MSV3drs121908165
GWAS Ctlgrs121908165
Max Magnitude0
OMIM605998
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908165(T;T)
Alt rs121908165(T;T)
Reference rs121908165(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.154246014C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004917.3,