rs118203971

Orientation

plus

Stabilized

plus

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

Make rs118203971(C;C)

Make rs118203971(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44075786

Gene

G6PC3

is a	snp
is	mentioned by
dbSNP	rs118203971
dbSNP (classic)	rs118203971
ClinGen	rs118203971
ebi	rs118203971
HLI	rs118203971
Exac	rs118203971
Gnomad	rs118203971
Varsome	rs118203971
LitVar	rs118203971
Map	rs118203971
PheGenI	rs118203971
Biobank	rs118203971
1000 genomes	rs118203971
hgdp	rs118203971
ensembl	rs118203971
geneview	rs118203971
scholar	rs118203971
google	rs118203971
pharmgkb	rs118203971
gwascentral	rs118203971
openSNP	rs118203971
23andMe	rs118203971
SNPshot	rs118203971
SNPdbe	rs118203971
MSV3d	rs118203971
GWAS Ctlg	rs118203971

Max Magnitude

0

OMIM	611045
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118203971(C;C)
Alt	rs118203971(C;C)
Reference	Rs118203971(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.42153154G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001095.2,