rs1060503495

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;T)	3	Carrier of a primary ciliary dyskinesia mutation
(T;T)	0	common in clinvar

Make rs1060503495(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

34485216

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs1060503495
dbSNP (classic)	rs1060503495
ClinGen	rs1060503495
ebi	rs1060503495
HLI	rs1060503495
Exac	rs1060503495
Gnomad	rs1060503495
Varsome	rs1060503495
LitVar	rs1060503495
Map	rs1060503495
PheGenI	rs1060503495
Biobank	rs1060503495
1000 genomes	rs1060503495
hgdp	rs1060503495
ensembl	rs1060503495
geneview	rs1060503495
scholar	rs1060503495
google	rs1060503495
pharmgkb	rs1060503495
gwascentral	rs1060503495
openSNP	rs1060503495
23andMe	rs1060503495
SNPshot	rs1060503495
SNPdbe	rs1060503495
MSV3d	rs1060503495
GWAS Ctlg	rs1060503495

Max Magnitude

3

aka c.156delT (p.Asp53Thrfs)

ClinVar
Risk	rs1060503495(-;-)
Alt	rs1060503495(-;-)
Reference	Rs1060503495(T;T)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	DNAI1
CLNDBN	Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000009.11:g.34485214delT
CLNSRC
CLNACC	RCV000466842.1,