rs386834048

Orientation

minus

Stabilized

minus

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

Make rs386834048(A;A)

Make rs386834048(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58216088

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs386834048
dbSNP (classic)	rs386834048
ClinGen	rs386834048
ebi	rs386834048
HLI	rs386834048
Exac	rs386834048
Gnomad	rs386834048
Varsome	rs386834048
LitVar	rs386834048
Map	rs386834048
PheGenI	rs386834048
Biobank	rs386834048
1000 genomes	rs386834048
hgdp	rs386834048
ensembl	rs386834048
geneview	rs386834048
scholar	rs386834048
google	rs386834048
pharmgkb	rs386834048
gwascentral	rs386834048
openSNP	rs386834048
23andMe	rs386834048
SNPshot	rs386834048
SNPdbe	rs386834048
MSV3d	rs386834048
GWAS Ctlg	rs386834048

Max Magnitude

0

ClinVar
Risk	rs386834048(A;A)
Alt	rs386834048(A;A)
Reference	Rs386834048(G;G)
Significance	Other
Disease	Meckel syndrome type 1 Joubert syndrome not specified
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1 Joubert syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.56293449C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022415.6, RCV000201633.1, RCV000341018.1,

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

[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

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