rs397515340

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGA;AGA)	0	common in clinvar
(GAA;GAA)	0	common in clinvar

Make rs397515340(-;-)

Make rs397515340(-;GAA)

Reference

GRCh38 38.1/141

Chromosome

6

Position

43670919

Gene	MRPS18A, RSPH9

is a	snp
is	mentioned by
dbSNP	rs397515340
dbSNP (classic)	rs397515340
ClinGen	rs397515340
ebi	rs397515340
HLI	rs397515340
Exac	rs397515340
Gnomad	rs397515340
Varsome	rs397515340
LitVar	rs397515340
Map	rs397515340
PheGenI	rs397515340
Biobank	rs397515340
1000 genomes	rs397515340
hgdp	rs397515340
ensembl	rs397515340
geneview	rs397515340
scholar	rs397515340
google	rs397515340
pharmgkb	rs397515340
gwascentral	rs397515340
openSNP	rs397515340
23andMe	rs397515340
SNPshot	rs397515340
SNPdbe	rs397515340
MSV3d	rs397515340
GWAS Ctlg	rs397515340

Merged from

Rs397518457

Max Magnitude

0

ClinVar
Risk	rs397515340(-;-) Rs397515340(AGA;AGA)
Alt	rs397515340(-;-) Rs397515340(AGA;AGA)
Reference	Rs397515340(GAA;GAA)
Significance	Pathogenic
Disease	Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia not provided
Variation	info
Gene	MRPS18A RSPH9
CLNDBN	Ciliary dyskinesia, primary, 12 Kartagener syndrome Primary ciliary dyskinesia not provided
Reversed	0
HGVS	NC_000006.11:g.43638659_43638661delGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000057516.6, RCV000190874.1, RCV000234192.1, RCV000487186.1,