rs587777078

Orientation

plus

Stabilized

plus

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

Make rs587777078(-;-)

Make rs587777078(-;TCTC)

Reference

GRCh38 38.1/142

Chromosome

2

Position

27445436

Gene	IFT172, KRTCAP3

is a	snp
is	mentioned by
dbSNP	rs587777078
dbSNP (classic)	rs587777078
ClinGen	rs587777078
ebi	rs587777078
HLI	rs587777078
Exac	rs587777078
Gnomad	rs587777078
Varsome	rs587777078
LitVar	rs587777078
Map	rs587777078
PheGenI	rs587777078
Biobank	rs587777078
1000 genomes	rs587777078
hgdp	rs587777078
ensembl	rs587777078
geneview	rs587777078
scholar	rs587777078
google	rs587777078
pharmgkb	rs587777078
gwascentral	rs587777078
openSNP	rs587777078
23andMe	rs587777078
SNPshot	rs587777078
SNPdbe	rs587777078
MSV3d	rs587777078
GWAS Ctlg	rs587777078

Max Magnitude

0

ClinVar
Risk	rs587777078(-;-)
Alt	rs587777078(-;-)
Reference	Rs587777078(TCTC;TCTC)
Significance	Pathogenic
Disease	Short-rib thoracic dysplasia 10 without polydactyly
Variation	info
Gene	KRTCAP3 IFT172
CLNDBN	Short-rib thoracic dysplasia 10 without polydactyly
Reversed	0
HGVS	NC_000002.11:g.27668303_27668306delTCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083269.4,