rs121917857

Orientation

minus

Stabilized

minus

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

Make rs121917857(C;C)

Make rs121917857(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219057441

Gene

IHH

is a	snp
is	mentioned by
dbSNP	rs121917857
dbSNP (classic)	rs121917857
ClinGen	rs121917857
ebi	rs121917857
HLI	rs121917857
Exac	rs121917857
Gnomad	rs121917857
Varsome	rs121917857
LitVar	rs121917857
Map	rs121917857
PheGenI	rs121917857
Biobank	rs121917857
1000 genomes	rs121917857
hgdp	rs121917857
ensembl	rs121917857
geneview	rs121917857
scholar	rs121917857
google	rs121917857
pharmgkb	rs121917857
gwascentral	rs121917857
openSNP	rs121917857
23andMe	rs121917857
SNPshot	rs121917857
SNPdbe	rs121917857
MSV3d	rs121917857
GWAS Ctlg	rs121917857

Max Magnitude

0

ClinVar
Risk	rs121917857(C;C)
Alt	rs121917857(C;C)
Reference	Rs121917857(T;T)
Significance	Pathogenic
Disease	Acrocapitofemoral dysplasia
Variation	info
Gene	IHH
CLNDBN	Acrocapitofemoral dysplasia
Reversed	1
HGVS	NC_000002.11:g.219922163A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009421.3,