rs121912607

Orientation

plus

Stabilized

plus

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

Make rs121912607(A;A)

Make rs121912607(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

94003774

Gene

ARL13B

is a	snp
is	mentioned by
dbSNP	rs121912607
dbSNP (classic)	rs121912607
ClinGen	rs121912607
ebi	rs121912607
HLI	rs121912607
Exac	rs121912607
Gnomad	rs121912607
Varsome	rs121912607
LitVar	rs121912607
Map	rs121912607
PheGenI	rs121912607
Biobank	rs121912607
1000 genomes	rs121912607
hgdp	rs121912607
ensembl	rs121912607
geneview	rs121912607
scholar	rs121912607
google	rs121912607
pharmgkb	rs121912607
gwascentral	rs121912607
openSNP	rs121912607
23andMe	rs121912607
SNPshot	rs121912607
SNPdbe	rs121912607
MSV3d	rs121912607
GWAS Ctlg	rs121912607

Max Magnitude

0

OMIM	608922
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912607(A;A)
Alt	rs121912607(A;A)
Reference	Rs121912607(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 8
Variation	info
Gene	ARL13B
CLNDBN	Joubert syndrome 8
Reversed	0
HGVS	NC_000003.11:g.93722618G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002069.3,