rs17103671

Orientation

plus

Stabilized

plus

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

Make rs17103671(A;G)

Make rs17103671(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

21343037

Gene

RPGRIP1

is a	snp
is	mentioned by
dbSNP	rs17103671
dbSNP (classic)	rs17103671
ClinGen	rs17103671
ebi	rs17103671
HLI	rs17103671
Exac	rs17103671
Gnomad	rs17103671
Varsome	rs17103671
LitVar	rs17103671
Map	rs17103671
PheGenI	rs17103671
Biobank	rs17103671
1000 genomes	rs17103671
hgdp	rs17103671
ensembl	rs17103671
geneview	rs17103671
scholar	rs17103671
google	rs17103671
pharmgkb	rs17103671
gwascentral	rs17103671
openSNP	rs17103671
23andMe	rs17103671
SNPshot	rs17103671
SNPdbe	rs17103671
MSV3d	rs17103671
GWAS Ctlg	rs17103671

GMAF

0.02617

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	605446
Desc
Variant	0007
Related	also

ClinVar
Risk	rs17103671(G;G)
Alt	rs17103671(G;G)
Reference	Rs17103671(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 6 not specified Leber congenital amaurosis
Variation	info
Gene	RPGRIP1
CLNDBN	Leber congenital amaurosis 6 not specified Leber congenital amaurosis
Reversed	0
HGVS	NC_000014.8:g.21811196A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005276.3, RCV000176224.1, RCV000344223.1,