Have questions? Visit https://www.reddit.com/r/SNPedia

rs200478425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200478425(C;C)
Make rs200478425(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44075780
GeneG6PC3
is asnp
is mentioned by
dbSNPrs200478425
ebirs200478425
HLIrs200478425
Exacrs200478425
Varsomers200478425
Maprs200478425
PheGenIrs200478425
hapmaprs200478425
1000 genomesrs200478425
hgdprs200478425
ensemblrs200478425
gopubmedrs200478425
geneviewrs200478425
scholarrs200478425
googlers200478425
pharmgkbrs200478425
gwascentralrs200478425
openSNPrs200478425
23andMers200478425
23andMe allrs200478425
SNP Nexus

SNPshotrs200478425
SNPdbers200478425
MSV3drs200478425
GWAS Ctlgrs200478425
Max Magnitude0
ClinVar
Risk rs200478425(C;C)
Alt rs200478425(C;C)
Reference rs200478425(G;G)
Significance Pathogenic
Disease Severe congenital neutropenia 4
Variation info
Gene G6PC3
CLNDBN Severe congenital neutropenia 4, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.42153148G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023859.2,