rs121909256

Orientation

minus

Stabilized

minus

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

Make rs121909256(C;C)

Make rs121909256(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47447927

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs121909256
dbSNP (classic)	rs121909256
ClinGen	rs121909256
ebi	rs121909256
HLI	rs121909256
Exac	rs121909256
Gnomad	rs121909256
Varsome	rs121909256
LitVar	rs121909256
Map	rs121909256
PheGenI	rs121909256
Biobank	rs121909256
1000 genomes	rs121909256
hgdp	rs121909256
ensembl	rs121909256
geneview	rs121909256
scholar	rs121909256
google	rs121909256
pharmgkb	rs121909256
gwascentral	rs121909256
openSNP	rs121909256
23andMe	rs121909256
SNPshot	rs121909256
SNPdbe	rs121909256
MSV3d	rs121909256
GWAS Ctlg	rs121909256

Max Magnitude

0

OMIM	601592
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121909256(C;C)
Alt	rs121909256(C;C)
Reference	Rs121909256(T;T)
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.47469479A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008524.3,