rs367543285

Orientation

minus

Stabilized

minus

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

Make rs367543285(C;C)

Make rs367543285(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

15174248

Gene

NOTCH3

is a	snp
is	mentioned by
dbSNP	rs367543285
dbSNP (classic)	rs367543285
ClinGen	rs367543285
ebi	rs367543285
HLI	rs367543285
Exac	rs367543285
Gnomad	rs367543285
Varsome	rs367543285
LitVar	rs367543285
Map	rs367543285
PheGenI	rs367543285
Biobank	rs367543285
1000 genomes	rs367543285
hgdp	rs367543285
ensembl	rs367543285
geneview	rs367543285
scholar	rs367543285
google	rs367543285
pharmgkb	rs367543285
gwascentral	rs367543285
openSNP	rs367543285
23andMe	rs367543285
SNPshot	rs367543285
SNPdbe	rs367543285
MSV3d	rs367543285
GWAS Ctlg	rs367543285

Max Magnitude

0

ClinVar
Risk	rs367543285(C;C)
Alt	rs367543285(C;C)
Reference	Rs367543285(T;T)
Significance	Pathogenic
Disease	Infantile myofibromatosis 2 Infantile myofibromatosis 1
Variation	info
Gene	NOTCH3
CLNDBN	Infantile myofibromatosis 2 Infantile myofibromatosis 1
Reversed	1
HGVS	NC_000019.9:g.15285059A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000049266.6, RCV000049572.1,