rs375113643

Orientation

plus

Stabilized

plus

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

Make rs375113643(C;T)

Make rs375113643(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

67095440

Gene

CSPP1

is a	snp
is	mentioned by
dbSNP	rs375113643
dbSNP (classic)	rs375113643
ClinGen	rs375113643
ebi	rs375113643
HLI	rs375113643
Exac	rs375113643
Gnomad	rs375113643
Varsome	rs375113643
LitVar	rs375113643
Map	rs375113643
PheGenI	rs375113643
Biobank	rs375113643
1000 genomes	rs375113643
hgdp	rs375113643
ensembl	rs375113643
geneview	rs375113643
scholar	rs375113643
google	rs375113643
pharmgkb	rs375113643
gwascentral	rs375113643
openSNP	rs375113643
23andMe	rs375113643
SNPshot	rs375113643
SNPdbe	rs375113643
MSV3d	rs375113643
GWAS Ctlg	rs375113643

Max Magnitude

0

ClinVar
Risk	rs375113643(T;T)
Alt	rs375113643(T;T)
Reference	Rs375113643(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 21
Variation	info
Gene	CSPP1
CLNDBN	Joubert syndrome 21
Reversed	0
HGVS	NC_000008.10:g.68007675C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087072.5,