rs104893611

Orientation

minus

Stabilized

minus

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

Make rs104893611(C;T)

Make rs104893611(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

130597896

Gene	CFC1, POTEI

is a	snp
is	mentioned by
dbSNP	rs104893611
dbSNP (classic)	rs104893611
ClinGen	rs104893611
ebi	rs104893611
HLI	rs104893611
Exac	rs104893611
Gnomad	rs104893611
Varsome	rs104893611
LitVar	rs104893611
Map	rs104893611
PheGenI	rs104893611
Biobank	rs104893611
1000 genomes	rs104893611
hgdp	rs104893611
ensembl	rs104893611
geneview	rs104893611
scholar	rs104893611
google	rs104893611
pharmgkb	rs104893611
gwascentral	rs104893611
openSNP	rs104893611
23andMe	rs104893611
SNPshot	rs104893611
SNPdbe	rs104893611
MSV3d	rs104893611
GWAS Ctlg	rs104893611

Max Magnitude

0

OMIM	605194
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893611(T;T)
Alt	rs104893611(T;T)
Reference	Rs104893611(C;C)
Significance	Pathogenic
Disease	Heterotaxy
Variation	info
Gene	CFC1
CLNDBN	Heterotaxy, visceral, 2, autosomal
Reversed	1
HGVS	NC_000002.11:g.131355469G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005496.3,