rs121908440

Orientation

plus

Stabilized

plus

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

Make rs121908440(C;T)

Make rs121908440(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

93830534

Gene	GPC6, GPC6-AS2

is a	snp
is	mentioned by
dbSNP	rs121908440
dbSNP (classic)	rs121908440
ClinGen	rs121908440
ebi	rs121908440
HLI	rs121908440
Exac	rs121908440
Gnomad	rs121908440
Varsome	rs121908440
LitVar	rs121908440
Map	rs121908440
PheGenI	rs121908440
Biobank	rs121908440
1000 genomes	rs121908440
hgdp	rs121908440
ensembl	rs121908440
geneview	rs121908440
scholar	rs121908440
google	rs121908440
pharmgkb	rs121908440
gwascentral	rs121908440
openSNP	rs121908440
23andMe	rs121908440
SNPshot	rs121908440
SNPdbe	rs121908440
MSV3d	rs121908440
GWAS Ctlg	rs121908440

Max Magnitude

0

OMIM	604404
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908440(T;T)
Alt	rs121908440(T;T)
Reference	Rs121908440(C;C)
Significance	Pathogenic
Disease	Omodysplasia 1
Variation	info
Gene	GPC6 GPC6-AS2
CLNDBN	Omodysplasia 1
Reversed	0
HGVS	NC_000013.10:g.94482787C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005891.4,