rs587777081

Orientation

plus

Stabilized

plus

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

Make rs587777081(A;A)

Make rs587777081(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

27459449

Gene

IFT172

is a	snp
is	mentioned by
dbSNP	rs587777081
dbSNP (classic)	rs587777081
ClinGen	rs587777081
ebi	rs587777081
HLI	rs587777081
Exac	rs587777081
Gnomad	rs587777081
Varsome	rs587777081
LitVar	rs587777081
Map	rs587777081
PheGenI	rs587777081
Biobank	rs587777081
1000 genomes	rs587777081
hgdp	rs587777081
ensembl	rs587777081
geneview	rs587777081
scholar	rs587777081
google	rs587777081
pharmgkb	rs587777081
gwascentral	rs587777081
openSNP	rs587777081
23andMe	rs587777081
SNPshot	rs587777081
SNPdbe	rs587777081
MSV3d	rs587777081
GWAS Ctlg	rs587777081

Max Magnitude

0

ClinVar
Risk	rs587777081(A;A)
Alt	rs587777081(A;A)
Reference	Rs587777081(G;G)
Significance	Pathogenic
Disease	Short-rib thoracic dysplasia 10 without polydactyly
Variation	info
Gene	IFT172
CLNDBN	Short-rib thoracic dysplasia 10 without polydactyly
Reversed	0
HGVS	NC_000002.11:g.27682316G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083272.4,