rs104894173

Orientation

minus

Stabilized

minus

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

Make rs104894173(A;A)

Make rs104894173(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

13288428

Gene

PHYH

is a	snp
is	mentioned by
dbSNP	rs104894173
dbSNP (classic)	rs104894173
ClinGen	rs104894173
ebi	rs104894173
HLI	rs104894173
Exac	rs104894173
Gnomad	rs104894173
Varsome	rs104894173
LitVar	rs104894173
Map	rs104894173
PheGenI	rs104894173
Biobank	rs104894173
1000 genomes	rs104894173
hgdp	rs104894173
ensembl	rs104894173
geneview	rs104894173
scholar	rs104894173
google	rs104894173
pharmgkb	rs104894173
gwascentral	rs104894173
openSNP	rs104894173
23andMe	rs104894173
SNPshot	rs104894173
SNPdbe	rs104894173
MSV3d	rs104894173
GWAS Ctlg	rs104894173

Merged from

Rs28939673

Max Magnitude

0

OMIM	602026
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894173(A;A)
Alt	rs104894173(A;A)
Reference	Rs104894173(G;G)
Significance	Pathogenic
Disease	Refsum disease
Variation	info
Gene	PHYH
CLNDBN	Refsum disease, adult, 1
Reversed	1
HGVS	NC_000010.10:g.13330428C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008025.4,