rs587777082

Orientation

plus

Stabilized

minus

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

Make rs587777082(C;T)

Make rs587777082(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

27457638

Gene

IFT172

is a	snp
is	mentioned by
dbSNP	rs587777082
dbSNP (classic)	rs587777082
ClinGen	rs587777082
ebi	rs587777082
HLI	rs587777082
Exac	rs587777082
Gnomad	rs587777082
Varsome	rs587777082
LitVar	rs587777082
Map	rs587777082
PheGenI	rs587777082
Biobank	rs587777082
1000 genomes	rs587777082
hgdp	rs587777082
ensembl	rs587777082
geneview	rs587777082
scholar	rs587777082
google	rs587777082
pharmgkb	rs587777082
gwascentral	rs587777082
openSNP	rs587777082
23andMe	rs587777082
SNPshot	rs587777082
SNPdbe	rs587777082
MSV3d	rs587777082
GWAS Ctlg	rs587777082

Max Magnitude

0

ClinVar
Risk	Rs587777082(C;C) rs587777082(T;T)
Alt	Rs587777082(C;C) rs587777082(T;T)
Reference	Rs587777082(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	1
HGVS	NC_000002.11:g.27680505C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083273.4,