rs28938169

Orientation

minus

Stabilized

minus

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

Make rs28938169(C;T)

Make rs28938169(T;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

13298236

Gene

PHYH

is a	snp
is	mentioned by
dbSNP	rs28938169
dbSNP (classic)	rs28938169
ClinGen	rs28938169
ebi	rs28938169
HLI	rs28938169
Exac	rs28938169
Gnomad	rs28938169
Varsome	rs28938169
LitVar	rs28938169
Map	rs28938169
PheGenI	rs28938169
Biobank	rs28938169
1000 genomes	rs28938169
hgdp	rs28938169
ensembl	rs28938169
geneview	rs28938169
scholar	rs28938169
google	rs28938169
pharmgkb	rs28938169
gwascentral	rs28938169
openSNP	rs28938169
23andMe	rs28938169
SNPshot	rs28938169
SNPdbe	rs28938169
MSV3d	rs28938169
GWAS Ctlg	rs28938169

GMAF

0.107

Max Magnitude

0

OMIM	602026
Desc	REFSUM DISEASE
Variant	0006
Related	also

ClinVar
Risk	rs28938169(T;T)
Alt	rs28938169(T;T)
Reference	Rs28938169(C;C)
Significance	Other
Disease	not provided not specified Phytanic acid storage disease
Variation	info
Gene	PHYH
CLNDBN	not provided not specified Phytanic acid storage disease
Reversed	1
HGVS	NC_000010.10:g.13340236G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008020.5, RCV000117911.4, RCV000306854.1,