rs118204043

Orientation

plus

Stabilized

plus

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

Make rs118204043(C;T)

Make rs118204043(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

116628175

Gene

RSPH4A

is a	snp
is	mentioned by
dbSNP	rs118204043
dbSNP (classic)	rs118204043
ClinGen	rs118204043
ebi	rs118204043
HLI	rs118204043
Exac	rs118204043
Gnomad	rs118204043
Varsome	rs118204043
LitVar	rs118204043
Map	rs118204043
PheGenI	rs118204043
Biobank	rs118204043
1000 genomes	rs118204043
hgdp	rs118204043
ensembl	rs118204043
geneview	rs118204043
scholar	rs118204043
google	rs118204043
pharmgkb	rs118204043
gwascentral	rs118204043
openSNP	rs118204043
23andMe	rs118204043
23andMe all	rs118204043
SNPshot	rs118204043
SNPdbe	rs118204043
MSV3d	rs118204043
GWAS Ctlg	rs118204043

Max Magnitude

0

OMIM	612647
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118204043(T;T)
Alt	rs118204043(T;T)
Reference	Rs118204043(C;C)
Significance	Pathogenic
Disease	Ciliary dyskinesia
Variation	info
Gene	RSPH4A
CLNDBN	Ciliary dyskinesia, primary, 11
Reversed	0
HGVS	NC_000006.11:g.116949338C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000534.4,