rs104894178

Orientation

minus

Stabilized

minus

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

Make rs104894178(C;T)

Make rs104894178(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

13283695

Gene

PHYH

is a	snp
is	mentioned by
dbSNP	rs104894178
dbSNP (classic)	rs104894178
ClinGen	rs104894178
ebi	rs104894178
HLI	rs104894178
Exac	rs104894178
Gnomad	rs104894178
Varsome	rs104894178
LitVar	rs104894178
Map	rs104894178
PheGenI	rs104894178
Biobank	rs104894178
1000 genomes	rs104894178
hgdp	rs104894178
ensembl	rs104894178
geneview	rs104894178
scholar	rs104894178
google	rs104894178
pharmgkb	rs104894178
gwascentral	rs104894178
openSNP	rs104894178
23andMe	rs104894178
SNPshot	rs104894178
SNPdbe	rs104894178
MSV3d	rs104894178
GWAS Ctlg	rs104894178

Merged from

Rs28939671

Max Magnitude

0

OMIM	602026
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894178(T;T)
Alt	rs104894178(T;T)
Reference	Rs104894178(C;C)
Significance	Pathogenic
Disease	Refsum disease not provided
Variation	info
Gene	PHYH
CLNDBN	Refsum disease, adult, 1 not provided
Reversed	1
HGVS	NC_000010.10:g.13325695G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008018.2, RCV000255609.1,