rs121909257

Orientation

minus

Stabilized

minus

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

Make rs121909257(C;T)

Make rs121909257(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47442780

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs121909257
dbSNP (classic)	rs121909257
ClinGen	rs121909257
ebi	rs121909257
HLI	rs121909257
Exac	rs121909257
Gnomad	rs121909257
Varsome	rs121909257
LitVar	rs121909257
Map	rs121909257
PheGenI	rs121909257
Biobank	rs121909257
1000 genomes	rs121909257
hgdp	rs121909257
ensembl	rs121909257
geneview	rs121909257
scholar	rs121909257
google	rs121909257
pharmgkb	rs121909257
gwascentral	rs121909257
openSNP	rs121909257
23andMe	rs121909257
SNPshot	rs121909257
SNPdbe	rs121909257
MSV3d	rs121909257
GWAS Ctlg	rs121909257

Max Magnitude

0

OMIM	601592
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121909257(G;G) rs121909257(T;T)
Alt	rs121909257(G;G) rs121909257(T;T)
Reference	Rs121909257(C;C)
Significance	Pathogenic
Disease	Pena-Shokeir syndrome type I
Variation	info
Gene	RAPSN
CLNDBN	Pena-Shokeir syndrome type I
Reversed	1
HGVS	NC_000011.9:g.47464332G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008525.4,