rs863225207

Orientation

minus

Stabilized

minus

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

Make rs863225207(A;T)

Make rs863225207(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

58206172

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs863225207
dbSNP (classic)	rs863225207
ClinGen	rs863225207
ebi	rs863225207
HLI	rs863225207
Exac	rs863225207
Gnomad	rs863225207
Varsome	rs863225207
LitVar	rs863225207
Map	rs863225207
PheGenI	rs863225207
Biobank	rs863225207
1000 genomes	rs863225207
hgdp	rs863225207
ensembl	rs863225207
geneview	rs863225207
scholar	rs863225207
google	rs863225207
pharmgkb	rs863225207
gwascentral	rs863225207
openSNP	rs863225207
23andMe	rs863225207
SNPshot	rs863225207
SNPdbe	rs863225207
MSV3d	rs863225207
GWAS Ctlg	rs863225207

Max Magnitude

0

ClinVar
Risk	rs863225207(T;T)
Alt	rs863225207(T;T)
Reference	Rs863225207(A;A)
Significance	Pathogenic
Disease	Joubert syndrome
Variation	info
Gene	MKS1
CLNDBN	Joubert syndrome
Reversed	1
HGVS	NC_000017.10:g.56283533T>A
CLNSRC
CLNACC	RCV000201731.1,