rs587777143

Orientation

plus

Stabilized

plus

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

Make rs587777143(-;-)

Make rs587777143(-;AT)

Reference

GRCh38 38.1/142

Chromosome

8

Position

67161814

Gene

CSPP1

is a	snp
is	mentioned by
dbSNP	rs587777143
dbSNP (classic)	rs587777143
ClinGen	rs587777143
ebi	rs587777143
HLI	rs587777143
Exac	rs587777143
Gnomad	rs587777143
Varsome	rs587777143
LitVar	rs587777143
Map	rs587777143
PheGenI	rs587777143
Biobank	rs587777143
1000 genomes	rs587777143
hgdp	rs587777143
ensembl	rs587777143
geneview	rs587777143
scholar	rs587777143
google	rs587777143
pharmgkb	rs587777143
gwascentral	rs587777143
openSNP	rs587777143
23andMe	rs587777143
SNPshot	rs587777143
SNPdbe	rs587777143
MSV3d	rs587777143
GWAS Ctlg	rs587777143

Max Magnitude

0

ClinVar
Risk	rs587777143(-;-)
Alt	rs587777143(-;-)
Reference	Rs587777143(AT;AT)
Significance	Pathogenic
Disease	Joubert syndrome 21
Variation	info
Gene	CSPP1
CLNDBN	Joubert syndrome 21
Reversed	0
HGVS	NC_000008.10:g.68074049_68074050delAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087071.5,