rs387906837

Orientation

minus

Stabilized

minus

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

Make rs387906837(G;T)

Make rs387906837(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

35505751

Gene

TULP1

is a	snp
is	mentioned by
dbSNP	rs387906837
dbSNP (classic)	rs387906837
ClinGen	rs387906837
ebi	rs387906837
HLI	rs387906837
Exac	rs387906837
Gnomad	rs387906837
Varsome	rs387906837
LitVar	rs387906837
Map	rs387906837
PheGenI	rs387906837
Biobank	rs387906837
1000 genomes	rs387906837
hgdp	rs387906837
ensembl	rs387906837
geneview	rs387906837
scholar	rs387906837
google	rs387906837
pharmgkb	rs387906837
gwascentral	rs387906837
openSNP	rs387906837
23andMe	rs387906837
SNPshot	rs387906837
SNPdbe	rs387906837
MSV3d	rs387906837
GWAS Ctlg	rs387906837

Max Magnitude

0

ClinVar
Risk	rs387906837(A;A) rs387906837(T;T)
Alt	rs387906837(A;A) rs387906837(T;T)
Reference	Rs387906837(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 15
Variation	info
Gene	TULP1
CLNDBN	Leber congenital amaurosis 15
Reversed	1
HGVS	NC_000006.11:g.35473528C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023189.3,