rs118203969

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs118203969(C;C)

Make rs118203969(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44075328

Gene

G6PC3

is a	snp
is	mentioned by
dbSNP	rs118203969
dbSNP (classic)	rs118203969
ClinGen	rs118203969
ebi	rs118203969
HLI	rs118203969
Exac	rs118203969
Gnomad	rs118203969
Varsome	rs118203969
LitVar	rs118203969
Map	rs118203969
PheGenI	rs118203969
Biobank	rs118203969
1000 genomes	rs118203969
hgdp	rs118203969
ensembl	rs118203969
geneview	rs118203969
scholar	rs118203969
google	rs118203969
pharmgkb	rs118203969
gwascentral	rs118203969
openSNP	rs118203969
23andMe	rs118203969
SNPshot	rs118203969
SNPdbe	rs118203969
MSV3d	rs118203969
GWAS Ctlg	rs118203969

Max Magnitude

0

OMIM	611045
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118203969(C;C)
Alt	rs118203969(C;C)
Reference	Rs118203969(T;T)
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.42152696T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001093.2,