rs199882533

Orientation

plus

Stabilized

plus

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

Make rs199882533(A;A)

Make rs199882533(A;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

75764691

Gene

TTLL5

is a	snp
is	mentioned by
dbSNP	rs199882533
dbSNP (classic)	rs199882533
ClinGen	rs199882533
ebi	rs199882533
HLI	rs199882533
Exac	rs199882533
Gnomad	rs199882533
Varsome	rs199882533
LitVar	rs199882533
Map	rs199882533
PheGenI	rs199882533
Biobank	rs199882533
1000 genomes	rs199882533
hgdp	rs199882533
ensembl	rs199882533
geneview	rs199882533
scholar	rs199882533
google	rs199882533
pharmgkb	rs199882533
gwascentral	rs199882533
openSNP	rs199882533
23andMe	rs199882533
SNPshot	rs199882533
SNPdbe	rs199882533
MSV3d	rs199882533
GWAS Ctlg	rs199882533

Max Magnitude

0

ClinVar
Risk	rs199882533(A;A) rs199882533(T;T)
Alt	rs199882533(A;A) rs199882533(T;T)
Reference	Rs199882533(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.76231034G>A; NC_000014.8:g.76231034G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000128418.2, RCV000128417.2,