rs794729668

Orientation

plus

Stabilized

plus

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

Make rs794729668(A;G)

Make rs794729668(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

49818457

Gene	FUZ, MED25

is a	snp
is	mentioned by
dbSNP	rs794729668
dbSNP (classic)	rs794729668
ClinGen	rs794729668
ebi	rs794729668
HLI	rs794729668
Exac	rs794729668
Gnomad	rs794729668
Varsome	rs794729668
LitVar	rs794729668
Map	rs794729668
PheGenI	rs794729668
Biobank	rs794729668
1000 genomes	rs794729668
hgdp	rs794729668
ensembl	rs794729668
geneview	rs794729668
scholar	rs794729668
google	rs794729668
pharmgkb	rs794729668
gwascentral	rs794729668
openSNP	rs794729668
23andMe	rs794729668
SNPshot	rs794729668
SNPdbe	rs794729668
MSV3d	rs794729668
GWAS Ctlg	rs794729668

Max Magnitude

0

ClinVar
Risk	rs794729668(G;G)
Alt	rs794729668(G;G)
Reference	Rs794729668(A;A)
Significance	Pathogenic
Disease	Basel-Vanagaite-Smirin-Yosef syndrome
Variation	info
Gene	MED25
CLNDBN	Basel-Vanagaite-Smirin-Yosef syndrome
Reversed	0
HGVS	NC_000019.9:g.50321714A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000185605.3,