rs375086983

Orientation

plus

Stabilized

plus

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

Make rs375086983(G;T)

Make rs375086983(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173232696

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs375086983
dbSNP (classic)	rs375086983
ClinGen	rs375086983
ebi	rs375086983
HLI	rs375086983
Exac	rs375086983
Gnomad	rs375086983
Varsome	rs375086983
LitVar	rs375086983
Map	rs375086983
PheGenI	rs375086983
Biobank	rs375086983
1000 genomes	rs375086983
hgdp	rs375086983
ensembl	rs375086983
geneview	rs375086983
scholar	rs375086983
google	rs375086983
pharmgkb	rs375086983
gwascentral	rs375086983
openSNP	rs375086983
23andMe	rs375086983
SNPshot	rs375086983
SNPdbe	rs375086983
MSV3d	rs375086983
GWAS Ctlg	rs375086983

Max Magnitude

0

ClinVar
Risk	rs375086983(T;T)
Alt	rs375086983(T;T)
Reference	Rs375086983(G;G)
Significance	Pathogenic
Disease	Ventricular septal defect 3 not specified
Variation	info
Gene	NKX2-5
CLNDBN	Ventricular septal defect 3 not specified
Reversed	0
HGVS	NC_000005.9:g.172659699G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023023.2, RCV000421219.1,