rs201933838

Orientation

plus

Stabilized

plus

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

Make rs201933838(C;T)

Make rs201933838(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58214740

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs201933838
dbSNP (classic)	rs201933838
ClinGen	rs201933838
ebi	rs201933838
HLI	rs201933838
Exac	rs201933838
Gnomad	rs201933838
Varsome	rs201933838
LitVar	rs201933838
Map	rs201933838
PheGenI	rs201933838
Biobank	rs201933838
1000 genomes	rs201933838
hgdp	rs201933838
ensembl	rs201933838
geneview	rs201933838
scholar	rs201933838
google	rs201933838
pharmgkb	rs201933838
gwascentral	rs201933838
openSNP	rs201933838
23andMe	rs201933838
SNPshot	rs201933838
SNPdbe	rs201933838
MSV3d	rs201933838
GWAS Ctlg	rs201933838

GMAF

0.0

Max Magnitude

0

ClinVar
Risk	rs201933838(T;T)
Alt	rs201933838(T;T)
Reference	Rs201933838(C;C)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 1
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1
Reversed	0
HGVS	NC_000017.10:g.56292101C>T
CLNSRC	ClinVar
CLNACC	RCV000050037.1,

[PMID 17437276] Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.