rs750436680

Orientation

plus

Stabilized

plus

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

Make rs750436680(C;T)

Make rs750436680(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41354765

Gene	B9D2, TGFB1

is a	snp
is	mentioned by
dbSNP	rs750436680
dbSNP (classic)	rs750436680
ClinGen	rs750436680
ebi	rs750436680
HLI	rs750436680
Exac	rs750436680
Gnomad	rs750436680
Varsome	rs750436680
LitVar	rs750436680
Map	rs750436680
PheGenI	rs750436680
Biobank	rs750436680
1000 genomes	rs750436680
hgdp	rs750436680
ensembl	rs750436680
geneview	rs750436680
scholar	rs750436680
google	rs750436680
pharmgkb	rs750436680
gwascentral	rs750436680
openSNP	rs750436680
23andMe	rs750436680
SNPshot	rs750436680
SNPdbe	rs750436680
MSV3d	rs750436680
GWAS Ctlg	rs750436680

Max Magnitude

0

ClinVar
Risk	rs750436680(T;T)
Alt	rs750436680(T;T)
Reference	Rs750436680(C;C)
Significance	Pathogenic
Disease	Joubert syndrome
Variation	info
Gene	B9D2 TMEM91 TGFB1
CLNDBN	Joubert syndrome
Reversed	0
HGVS	NC_000019.9:g.41860670C>T
CLNSRC
CLNACC	RCV000201776.1,