rs145665129

Orientation

plus

Stabilized

plus

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

Make rs145665129(A;A)

Make rs145665129(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53645895

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs145665129
dbSNP (classic)	rs145665129
ClinGen	rs145665129
ebi	rs145665129
HLI	rs145665129
Exac	rs145665129
Gnomad	rs145665129
Varsome	rs145665129
LitVar	rs145665129
Map	rs145665129
PheGenI	rs145665129
Biobank	rs145665129
1000 genomes	rs145665129
hgdp	rs145665129
ensembl	rs145665129
geneview	rs145665129
scholar	rs145665129
google	rs145665129
pharmgkb	rs145665129
gwascentral	rs145665129
openSNP	rs145665129
23andMe	rs145665129
SNPshot	rs145665129
SNPdbe	rs145665129
MSV3d	rs145665129
GWAS Ctlg	rs145665129

Max Magnitude

0

ClinVar
Risk	rs145665129(A;A)
Alt	rs145665129(A;A)
Reference	Rs145665129(G;G)
Significance	Pathogenic
Disease	COACH syndrome Joubert syndrome 7
Variation	info
Gene	RPGRIP1L
CLNDBN	COACH syndrome Joubert syndrome 7
Reversed	0
HGVS	NC_000016.9:g.53679807G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001134.3, RCV000201645.1,