rs104894179

Orientation

minus

Stabilized

minus

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

Make rs104894179(A;C)

Make rs104894179(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

13283713

Gene

PHYH

is a	snp
is	mentioned by
dbSNP	rs104894179
dbSNP (classic)	rs104894179
ClinGen	rs104894179
ebi	rs104894179
HLI	rs104894179
Exac	rs104894179
Gnomad	rs104894179
Varsome	rs104894179
LitVar	rs104894179
Map	rs104894179
PheGenI	rs104894179
Biobank	rs104894179
1000 genomes	rs104894179
hgdp	rs104894179
ensembl	rs104894179
geneview	rs104894179
scholar	rs104894179
google	rs104894179
pharmgkb	rs104894179
gwascentral	rs104894179
openSNP	rs104894179
23andMe	rs104894179
SNPshot	rs104894179
SNPdbe	rs104894179
MSV3d	rs104894179
GWAS Ctlg	rs104894179

Max Magnitude

0

OMIM	602026
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894179(C;C)
Alt	rs104894179(C;C)
Reference	Rs104894179(A;A)
Significance	Pathogenic
Disease	Refsum disease
Variation	info
Gene	PHYH
CLNDBN	Refsum disease, adult, 1
Reversed	1
HGVS	NC_000010.10:g.13325713T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008022.6,