rs199874059

Orientation

plus

Stabilized

plus

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

Make rs199874059(C;T)

Make rs199874059(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58210658

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs199874059
dbSNP (classic)	rs199874059
ClinGen	rs199874059
ebi	rs199874059
HLI	rs199874059
Exac	rs199874059
Gnomad	rs199874059
Varsome	rs199874059
LitVar	rs199874059
Map	rs199874059
PheGenI	rs199874059
Biobank	rs199874059
1000 genomes	rs199874059
hgdp	rs199874059
ensembl	rs199874059
geneview	rs199874059
scholar	rs199874059
google	rs199874059
pharmgkb	rs199874059
gwascentral	rs199874059
openSNP	rs199874059
23andMe	rs199874059
SNPshot	rs199874059
SNPdbe	rs199874059
MSV3d	rs199874059
GWAS Ctlg	rs199874059

GMAF

0.0

Max Magnitude

0

ClinVar
Risk	rs199874059(T;T)
Alt	rs199874059(T;T)
Reference	Rs199874059(C;C)
Significance	Other
Disease	Meckel syndrome type 1
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1
Reversed	0
HGVS	NC_000017.10:g.56288019C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022414.6,

[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.