rs121909506

Orientation

plus

Stabilized

plus

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

Make rs121909506(C;C)

Make rs121909506(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232528301

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs121909506
dbSNP (classic)	rs121909506
ClinGen	rs121909506
ebi	rs121909506
HLI	rs121909506
Exac	rs121909506
Gnomad	rs121909506
Varsome	rs121909506
LitVar	rs121909506
Map	rs121909506
PheGenI	rs121909506
Biobank	rs121909506
1000 genomes	rs121909506
hgdp	rs121909506
ensembl	rs121909506
geneview	rs121909506
scholar	rs121909506
google	rs121909506
pharmgkb	rs121909506
gwascentral	rs121909506
openSNP	rs121909506
23andMe	rs121909506
SNPshot	rs121909506
SNPdbe	rs121909506
MSV3d	rs121909506
GWAS Ctlg	rs121909506

Max Magnitude

0

OMIM	100720
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909506(C;C)
Alt	rs121909506(C;C)
Reference	Rs121909506(T;T)
Significance	Pathogenic
Disease	Lethal multiple pterygium syndrome
Variation	info
Gene	CHRND
CLNDBN	Lethal multiple pterygium syndrome
Reversed	0
HGVS	NC_000002.11:g.233393011T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020037.28,