rs587777080

Orientation

plus

Stabilized

minus

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

Make rs587777080(A;G)

Make rs587777080(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

27447567

Gene

IFT172

is a	snp
is	mentioned by
dbSNP	rs587777080
dbSNP (classic)	rs587777080
ClinGen	rs587777080
ebi	rs587777080
HLI	rs587777080
Exac	rs587777080
Gnomad	rs587777080
Varsome	rs587777080
LitVar	rs587777080
Map	rs587777080
PheGenI	rs587777080
Biobank	rs587777080
1000 genomes	rs587777080
hgdp	rs587777080
ensembl	rs587777080
geneview	rs587777080
scholar	rs587777080
google	rs587777080
pharmgkb	rs587777080
gwascentral	rs587777080
openSNP	rs587777080
23andMe	rs587777080
SNPshot	rs587777080
SNPdbe	rs587777080
MSV3d	rs587777080
GWAS Ctlg	rs587777080

Max Magnitude

0

ClinVar
Risk	Rs587777080(A;A) rs587777080(G;G)
Alt	Rs587777080(A;A) rs587777080(G;G)
Reference	Rs587777080(T;T)
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.27670434A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000083271.4,