rs149614625

Orientation

plus

Stabilized

plus

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

Make rs149614625(A;G)

Make rs149614625(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

27444503

Gene	IFT172, KRTCAP3

is a	snp
is	mentioned by
dbSNP	rs149614625
dbSNP (classic)	rs149614625
ClinGen	rs149614625
ebi	rs149614625
HLI	rs149614625
Exac	rs149614625
Gnomad	rs149614625
Varsome	rs149614625
LitVar	rs149614625
Map	rs149614625
PheGenI	rs149614625
Biobank	rs149614625
1000 genomes	rs149614625
hgdp	rs149614625
ensembl	rs149614625
geneview	rs149614625
scholar	rs149614625
google	rs149614625
pharmgkb	rs149614625
gwascentral	rs149614625
openSNP	rs149614625
23andMe	rs149614625
SNPshot	rs149614625
SNPdbe	rs149614625
MSV3d	rs149614625
GWAS Ctlg	rs149614625

Max Magnitude

0

ClinVar
Risk	rs149614625(G;G)
Alt	rs149614625(G;G)
Reference	Rs149614625(A;A)
Significance	Pathogenic
Disease	Short-rib thoracic dysplasia 10 with or without polydactyly
Variation	info
Gene	KRTCAP3 IFT172
CLNDBN	Short-rib thoracic dysplasia 10 with or without polydactyly
Reversed	0
HGVS	NC_000002.11:g.27667370A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000083268.4,