rs1041951

plus

Geno	Mag	Summary
(C;C)	0	common on affy axiom data

Make rs1041951(C;T)

Make rs1041951(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

57573273

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs1041951
dbSNP (classic)	rs1041951
ClinGen	rs1041951
ebi	rs1041951
HLI	rs1041951
Exac	rs1041951
Gnomad	rs1041951
Varsome	rs1041951
LitVar	rs1041951
Map	rs1041951
PheGenI	rs1041951
Biobank	rs1041951
1000 genomes	rs1041951
hgdp	rs1041951
ensembl	rs1041951
geneview	rs1041951
scholar	rs1041951
google	rs1041951
pharmgkb	rs1041951
gwascentral	rs1041951
openSNP	rs1041951
23andMe	rs1041951
SNPshot	rs1041951
SNPdbe	rs1041951
MSV3d	rs1041951
GWAS Ctlg	rs1041951

GMAF

0.06428

Max Magnitude

0

rs1041951, also known as R96Q, is a SNP in the FECH gene. The allele frequency of the minor allele is between 5 - 10%, based on data in dbSNP and ExAC.

This SNP is reported to be a neutral polymorphism.[PMID 18698088]

?

(C;C) (C;T) (T;T)

28

[PMID 18773191 ] Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.

ClinVar
Risk	rs1041951(T;T)
Alt	rs1041951(T;T)
Reference	Rs1041951(C;C)
Significance	Non-pathogenic
Disease	Erythropoietic protoporphyria
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria
Reversed	0
HGVS	NC_000018.9:g.55240505C>T
CLNSRC
CLNACC	RCV000285620.1,