rs752207334

Orientation

plus

Stabilized

plus

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

Make rs752207334(A;A)

Make rs752207334(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

134549061

Gene

CEP63

is a	snp
is	mentioned by
dbSNP	rs752207334
dbSNP (classic)	rs752207334
ClinGen	rs752207334
ebi	rs752207334
HLI	rs752207334
Exac	rs752207334
Gnomad	rs752207334
Varsome	rs752207334
LitVar	rs752207334
Map	rs752207334
PheGenI	rs752207334
Biobank	rs752207334
1000 genomes	rs752207334
hgdp	rs752207334
ensembl	rs752207334
geneview	rs752207334
scholar	rs752207334
google	rs752207334
pharmgkb	rs752207334
gwascentral	rs752207334
openSNP	rs752207334
23andMe	rs752207334
SNPshot	rs752207334
SNPdbe	rs752207334
MSV3d	rs752207334
GWAS Ctlg	rs752207334

Max Magnitude

0

ClinVar
Risk	rs752207334(A;A) rs752207334(T;T)
Alt	rs752207334(A;A) rs752207334(T;T)
Reference	Rs752207334(G;G)
Significance	Pathogenic
Disease	Seckel syndrome 6
Variation	info
Gene	CEP63
CLNDBN	Seckel syndrome 6
Reversed	0
HGVS	NC_000003.11:g.134267903G>A
CLNSRC
CLNACC	RCV000194768.1,