rs104894559

Orientation

plus

Stabilized

plus

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

Make rs104894559(C;T)

Make rs104894559(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

60150074

Gene

CA4

is a	snp
is	mentioned by
dbSNP	rs104894559
dbSNP (classic)	rs104894559
ClinGen	rs104894559
ebi	rs104894559
HLI	rs104894559
Exac	rs104894559
Gnomad	rs104894559
Varsome	rs104894559
LitVar	rs104894559
Map	rs104894559
PheGenI	rs104894559
Biobank	rs104894559
1000 genomes	rs104894559
hgdp	rs104894559
ensembl	rs104894559
geneview	rs104894559
scholar	rs104894559
google	rs104894559
pharmgkb	rs104894559
gwascentral	rs104894559
openSNP	rs104894559
23andMe	rs104894559
SNPshot	rs104894559
SNPdbe	rs104894559
MSV3d	rs104894559
GWAS Ctlg	rs104894559

Max Magnitude

0

OMIM	114760
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894559(T;T)
Alt	rs104894559(T;T)
Reference	Rs104894559(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 17 Retinitis Pigmentosa
Variation	info
Gene	CA4
CLNDBN	Retinitis pigmentosa 17 Retinitis Pigmentosa, Dominant
Reversed	0
HGVS	NC_000017.10:g.58227435C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019173.24, RCV000336591.1,