rs587777471

Orientation

plus

Stabilized

plus

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

Make rs587777471(A;A)

Make rs587777471(A;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

75863694

Gene

TTLL5

is a	snp
is	mentioned by
dbSNP	rs587777471
dbSNP (classic)	rs587777471
ClinGen	rs587777471
ebi	rs587777471
HLI	rs587777471
Exac	rs587777471
Gnomad	rs587777471
Varsome	rs587777471
LitVar	rs587777471
Map	rs587777471
PheGenI	rs587777471
Biobank	rs587777471
1000 genomes	rs587777471
hgdp	rs587777471
ensembl	rs587777471
geneview	rs587777471
scholar	rs587777471
google	rs587777471
pharmgkb	rs587777471
gwascentral	rs587777471
openSNP	rs587777471
23andMe	rs587777471
SNPshot	rs587777471
SNPdbe	rs587777471
MSV3d	rs587777471
GWAS Ctlg	rs587777471

Max Magnitude

0

ClinVar
Risk	rs587777471(A;A)
Alt	rs587777471(A;A)
Reference	Rs587777471(G;G)
Significance	Pathogenic
Disease	Cone-rod dystrophy 19
Variation	info
Gene	TTLL5
CLNDBN	Cone-rod dystrophy 19
Reversed	0
HGVS	NC_000014.8:g.76330037G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128416.3,