rs587777144

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AT;AT)	0	common in clinvar
(I;I)	0	common genotype
(TA;TA)	0	common in clinvar

Make rs587777144(-;-)

Make rs587777144(-;TA)

Reference

GRCh38 38.1/142

Chromosome

8

Position

67086062

Gene

CSPP1

is a	snp
is	mentioned by
dbSNP	rs587777144
dbSNP (classic)	rs587777144
ClinGen	rs587777144
ebi	rs587777144
HLI	rs587777144
Exac	rs587777144
Gnomad	rs587777144
Varsome	rs587777144
LitVar	rs587777144
Map	rs587777144
PheGenI	rs587777144
Biobank	rs587777144
1000 genomes	rs587777144
hgdp	rs587777144
ensembl	rs587777144
geneview	rs587777144
scholar	rs587777144
google	rs587777144
pharmgkb	rs587777144
gwascentral	rs587777144
openSNP	rs587777144
23andMe	rs587777144
SNPshot	rs587777144
SNPdbe	rs587777144
MSV3d	rs587777144
GWAS Ctlg	rs587777144

Merged from

Rs863225196

Max Magnitude

0

ClinVar
Risk	rs587777144(-;-) Rs587777144(AT;AT)
Alt	rs587777144(-;-) Rs587777144(AT;AT)
Reference	Rs587777144(TA;TA)
Significance	Pathogenic
Disease	Joubert syndrome 21
Variation	info
Gene	CSPP1
CLNDBN	Joubert syndrome 21
Reversed	0
HGVS	NC_000008.10:g.67998297_67998298delTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087073.5,