rs386834041

Orientation

minus

Stabilized

minus

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

Make rs386834041(C;G)

Make rs386834041(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58208560

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs386834041
dbSNP (classic)	rs386834041
ClinGen	rs386834041
ebi	rs386834041
HLI	rs386834041
Exac	rs386834041
Gnomad	rs386834041
Varsome	rs386834041
LitVar	rs386834041
Map	rs386834041
PheGenI	rs386834041
Biobank	rs386834041
1000 genomes	rs386834041
hgdp	rs386834041
ensembl	rs386834041
geneview	rs386834041
scholar	rs386834041
google	rs386834041
pharmgkb	rs386834041
gwascentral	rs386834041
openSNP	rs386834041
23andMe	rs386834041
SNPshot	rs386834041
SNPdbe	rs386834041
MSV3d	rs386834041
GWAS Ctlg	rs386834041

Max Magnitude

0

ClinVar
Risk	rs386834041(G;G) rs386834041(T;T)
Alt	rs386834041(G;G) rs386834041(T;T)
Reference	Rs386834041(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.56285921G>A; NC_000017.10:g.56285921G>C
CLNSRC	ClinVar
CLNACC	RCV000050027.1, RCV000050026.1,

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