rs371812716

Orientation

plus

Stabilized

plus

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

Make rs371812716(A;A)

Make rs371812716(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

130398935

Gene

CEP41

is a	snp
is	mentioned by
dbSNP	rs371812716
dbSNP (classic)	rs371812716
ClinGen	rs371812716
ebi	rs371812716
HLI	rs371812716
Exac	rs371812716
Gnomad	rs371812716
Varsome	rs371812716
LitVar	rs371812716
Map	rs371812716
PheGenI	rs371812716
Biobank	rs371812716
1000 genomes	rs371812716
hgdp	rs371812716
ensembl	rs371812716
geneview	rs371812716
scholar	rs371812716
google	rs371812716
pharmgkb	rs371812716
gwascentral	rs371812716
openSNP	rs371812716
23andMe	rs371812716
SNPshot	rs371812716
SNPdbe	rs371812716
MSV3d	rs371812716
GWAS Ctlg	rs371812716

Max Magnitude

0

ClinVar
Risk	rs371812716(A;A)
Alt	rs371812716(A;A)
Reference	Rs371812716(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 9/15
Variation	info
Gene	CEP41
CLNDBN	Joubert syndrome 9/15, digenic
Reversed	0
HGVS	NC_000007.13:g.130038776G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023828.2,