rs118204042

Orientation

plus

Stabilized

plus

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

Make rs118204042(C;T)

Make rs118204042(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

116616948

Gene

RSPH4A

is a	snp
is	mentioned by
dbSNP	rs118204042
dbSNP (classic)	rs118204042
ClinGen	rs118204042
ebi	rs118204042
HLI	rs118204042
Exac	rs118204042
Gnomad	rs118204042
Varsome	rs118204042
LitVar	rs118204042
Map	rs118204042
PheGenI	rs118204042
Biobank	rs118204042
1000 genomes	rs118204042
hgdp	rs118204042
ensembl	rs118204042
geneview	rs118204042
scholar	rs118204042
google	rs118204042
pharmgkb	rs118204042
gwascentral	rs118204042
openSNP	rs118204042
23andMe	rs118204042
SNPshot	rs118204042
SNPdbe	rs118204042
MSV3d	rs118204042
GWAS Ctlg	rs118204042

Max Magnitude

0

OMIM	612647
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118204042(T;T)
Alt	rs118204042(T;T)
Reference	Rs118204042(C;C)
Significance	Pathogenic
Disease	Ciliary dyskinesia Primary ciliary dyskinesia
Variation	info
Gene	RSPH4A
CLNDBN	Ciliary dyskinesia, primary, 11 Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000006.11:g.116938111C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000533.4, RCV000473371.1,