rs104894174

Orientation

minus

Stabilized

minus

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

Make rs104894174(A;A)

Make rs104894174(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

13283694

Gene

PHYH

is a	snp
is	mentioned by
dbSNP	rs104894174
dbSNP (classic)	rs104894174
ClinGen	rs104894174
ebi	rs104894174
HLI	rs104894174
Exac	rs104894174
Gnomad	rs104894174
Varsome	rs104894174
LitVar	rs104894174
Map	rs104894174
PheGenI	rs104894174
Biobank	rs104894174
1000 genomes	rs104894174
hgdp	rs104894174
ensembl	rs104894174
geneview	rs104894174
scholar	rs104894174
google	rs104894174
pharmgkb	rs104894174
gwascentral	rs104894174
openSNP	rs104894174
23andMe	rs104894174
SNPshot	rs104894174
SNPdbe	rs104894174
MSV3d	rs104894174
GWAS Ctlg	rs104894174

Merged from

Rs28939674

Max Magnitude

0

OMIM	602026
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894174(A;A)
Alt	rs104894174(A;A)
Reference	Rs104894174(G;G)
Significance	Pathogenic
Disease	Refsum disease
Variation	info
Gene	PHYH
CLNDBN	Refsum disease, adult, 1
Reversed	1
HGVS	NC_000010.10:g.13325694C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008026.5,