rs1060500990

Orientation

minus

Stabilized

minus

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

Make rs1060500990(A;A)

Make rs1060500990(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

48303645

Gene

CCDC114

is a	snp
is	mentioned by
dbSNP	rs1060500990
dbSNP (classic)	rs1060500990
ClinGen	rs1060500990
ebi	rs1060500990
HLI	rs1060500990
Exac	rs1060500990
Gnomad	rs1060500990
Varsome	rs1060500990
LitVar	rs1060500990
Map	rs1060500990
PheGenI	rs1060500990
Biobank	rs1060500990
1000 genomes	rs1060500990
hgdp	rs1060500990
ensembl	rs1060500990
geneview	rs1060500990
scholar	rs1060500990
google	rs1060500990
pharmgkb	rs1060500990
gwascentral	rs1060500990
openSNP	rs1060500990
23andMe	rs1060500990
SNPshot	rs1060500990
SNPdbe	rs1060500990
MSV3d	rs1060500990
GWAS Ctlg	rs1060500990

Max Magnitude

0

ClinVar
Risk	rs1060500990(A;A)
Alt	rs1060500990(A;A)
Reference	Rs1060500990(G;G)
Significance	Probable-Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	CCDC114
CLNDBN	Primary ciliary dyskinesia
Reversed	1
HGVS	NC_000019.9:g.48806902C>T
CLNSRC
CLNACC	RCV000474496.1,