rs397518457

Merged into

rs397515340

Orientation

plus

Stabilized

plus

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

Make rs397518457(-;-)

Make rs397518457(-;GAA)

Reference

GRCh38 38.1/141

Chromosome

6

Position

43670922

Gene	MRPS18A, RSPH9

is a	snp
is	mentioned by
dbSNP	rs397518457
dbSNP (classic)	rs397518457
ClinGen	rs397518457
ebi	rs397518457
HLI	rs397518457
Exac	rs397518457
Gnomad	rs397518457
Varsome	rs397518457
LitVar	rs397518457
Map	rs397518457
PheGenI	rs397518457
Biobank	rs397518457
1000 genomes	rs397518457
hgdp	rs397518457
ensembl	rs397518457
geneview	rs397518457
scholar	rs397518457
google	rs397518457
pharmgkb	rs397518457
gwascentral	rs397518457
openSNP	rs397518457
23andMe	rs397518457
SNPshot	rs397518457
SNPdbe	rs397518457
MSV3d	rs397518457
GWAS Ctlg	rs397518457

Status

Merged into rs397515340

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs397518457(AGA;AGA)
Significance	Pathogenic
Disease	Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation	info
Gene	MRPS18A RSPH9
CLNDBN	Ciliary dyskinesia, primary, 12 Kartagener syndrome Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000006.11:g.43638659_43638661delGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000057516.5, RCV000190874.1, RCV000234192.1,