rs376048533

Orientation

plus

Stabilized

plus

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

Make rs376048533(C;T)

Make rs376048533(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

162272377

Gene

IFIH1

is a	snp
is	mentioned by
dbSNP	rs376048533
dbSNP (classic)	rs376048533
ClinGen	rs376048533
ebi	rs376048533
HLI	rs376048533
Exac	rs376048533
Gnomad	rs376048533
Varsome	rs376048533
LitVar	rs376048533
Map	rs376048533
PheGenI	rs376048533
Biobank	rs376048533
1000 genomes	rs376048533
hgdp	rs376048533
ensembl	rs376048533
geneview	rs376048533
scholar	rs376048533
google	rs376048533
pharmgkb	rs376048533
gwascentral	rs376048533
openSNP	rs376048533
23andMe	rs376048533
SNPshot	rs376048533
SNPdbe	rs376048533
MSV3d	rs376048533
GWAS Ctlg	rs376048533

Max Magnitude

0

ClinVar
Risk	rs376048533(T;T)
Alt	rs376048533(T;T)
Reference	Rs376048533(C;C)
Significance	Pathogenic
Disease	Singleton-Merten syndrome 1 not provided
Variation	info
Gene	IFIH1
CLNDBN	Singleton-Merten syndrome 1 not provided
Reversed	0
HGVS	NC_000002.11:g.163128887C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169754.3, RCV000436896.1,