rs386834049

Orientation

minus

Stabilized

minus

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

Make rs386834049(C;T)

Make rs386834049(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58214832

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs386834049
dbSNP (classic)	rs386834049
ClinGen	rs386834049
ebi	rs386834049
HLI	rs386834049
Exac	rs386834049
Gnomad	rs386834049
Varsome	rs386834049
LitVar	rs386834049
Map	rs386834049
PheGenI	rs386834049
Biobank	rs386834049
1000 genomes	rs386834049
hgdp	rs386834049
ensembl	rs386834049
geneview	rs386834049
scholar	rs386834049
google	rs386834049
pharmgkb	rs386834049
gwascentral	rs386834049
openSNP	rs386834049
23andMe	rs386834049
SNPshot	rs386834049
SNPdbe	rs386834049
MSV3d	rs386834049
GWAS Ctlg	rs386834049

Max Magnitude

0

ClinVar
Risk	rs386834049(T;T)
Alt	rs386834049(T;T)
Reference	Rs386834049(C;C)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 1
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1
Reversed	1
HGVS	NC_000017.10:g.56292193G>A
CLNSRC	ClinVar
CLNACC	RCV000050035.1,

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