rs104894200

Orientation

minus

Stabilized

minus

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

Make rs104894200(A;A)

Make rs104894200(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2884750

Gene	CDKN1C, LOC107987413

is a	snp
is	mentioned by
dbSNP	rs104894200
dbSNP (classic)	rs104894200
ClinGen	rs104894200
ebi	rs104894200
HLI	rs104894200
Exac	rs104894200
Gnomad	rs104894200
Varsome	rs104894200
LitVar	rs104894200
Map	rs104894200
PheGenI	rs104894200
Biobank	rs104894200
1000 genomes	rs104894200
hgdp	rs104894200
ensembl	rs104894200
geneview	rs104894200
scholar	rs104894200
google	rs104894200
pharmgkb	rs104894200
gwascentral	rs104894200
openSNP	rs104894200
23andMe	rs104894200
SNPshot	rs104894200
SNPdbe	rs104894200
MSV3d	rs104894200
GWAS Ctlg	rs104894200

Max Magnitude

0

OMIM	600856
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894200(A;A) rs104894200(T;T)
Alt	rs104894200(A;A) rs104894200(T;T)
Reference	Rs104894200(C;C)
Significance	Pathogenic
Disease	Beckwith-Wiedemann syndrome
Variation	info
Gene	CDKN1C
CLNDBN	Beckwith-Wiedemann syndrome
Reversed	1
HGVS	NC_000011.9:g.2905980G>A; NC_000011.9:g.2905980G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000476304.1, RCV000009290.2,