rs121434422

Orientation

minus

Stabilized

minus

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

Make rs121434422(A;A)

Make rs121434422(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18869035

Gene	CERS1, GDF1

is a	snp
is	mentioned by
dbSNP	rs121434422
dbSNP (classic)	rs121434422
ClinGen	rs121434422
ebi	rs121434422
HLI	rs121434422
Exac	rs121434422
Gnomad	rs121434422
Varsome	rs121434422
LitVar	rs121434422
Map	rs121434422
PheGenI	rs121434422
Biobank	rs121434422
1000 genomes	rs121434422
hgdp	rs121434422
ensembl	rs121434422
geneview	rs121434422
scholar	rs121434422
google	rs121434422
pharmgkb	rs121434422
gwascentral	rs121434422
openSNP	rs121434422
23andMe	rs121434422
SNPshot	rs121434422
SNPdbe	rs121434422
MSV3d	rs121434422
GWAS Ctlg	rs121434422

Max Magnitude

0

OMIM	602880
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434422(A;A)
Alt	rs121434422(A;A)
Reference	Rs121434422(C;C)
Significance	Pathogenic
Disease	Transposition of the great arteries Bilateral right-sidedness sequence Heterotaxy syndrome not provided
Variation	info
Gene	CERS1 GDF1
CLNDBN	Transposition of the great arteries, dextro-looped 3 Bilateral right-sidedness sequence Heterotaxy syndrome not provided
Reversed	1
HGVS	NC_000019.9:g.18979844G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007139.4, RCV000055615.3, RCV000197225.2, RCV000417815.1,