rs138004478

Orientation

plus

Stabilized

plus

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

Make rs138004478(C;G)

Make rs138004478(G;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

160356069

Gene

IFT80

is a	snp
is	mentioned by
dbSNP	rs138004478
dbSNP (classic)	rs138004478
ClinGen	rs138004478
ebi	rs138004478
HLI	rs138004478
Exac	rs138004478
Gnomad	rs138004478
Varsome	rs138004478
LitVar	rs138004478
Map	rs138004478
PheGenI	rs138004478
Biobank	rs138004478
1000 genomes	rs138004478
hgdp	rs138004478
ensembl	rs138004478
geneview	rs138004478
scholar	rs138004478
google	rs138004478
pharmgkb	rs138004478
gwascentral	rs138004478
openSNP	rs138004478
23andMe	rs138004478
SNPshot	rs138004478
SNPdbe	rs138004478
MSV3d	rs138004478
GWAS Ctlg	rs138004478

Max Magnitude

0

ClinVar
Risk	rs138004478(G;G) rs138004478(T;T)
Alt	rs138004478(G;G) rs138004478(T;T)
Reference	Rs138004478(C;C)
Significance	Pathogenic
Disease	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2
Variation	info
Gene	IFT80
CLNDBN	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2
Reversed	0
HGVS	NC_000003.11:g.160073857C>G; NC_000003.11:g.160073857C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000474945.1, RCV000087065.3,