rs386834046

Orientation

minus

Stabilized

minus

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

Make rs386834046(-;-)

Make rs386834046(-;ACTGCCA)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58218620

Gene	LOC105371841, MKS1

is a	snp
is	mentioned by
dbSNP	rs386834046
dbSNP (classic)	rs386834046
ClinGen	rs386834046
ebi	rs386834046
HLI	rs386834046
Exac	rs386834046
Gnomad	rs386834046
Varsome	rs386834046
LitVar	rs386834046
Map	rs386834046
PheGenI	rs386834046
Biobank	rs386834046
1000 genomes	rs386834046
hgdp	rs386834046
ensembl	rs386834046
geneview	rs386834046
scholar	rs386834046
google	rs386834046
pharmgkb	rs386834046
gwascentral	rs386834046
openSNP	rs386834046
23andMe	rs386834046
SNPshot	rs386834046
SNPdbe	rs386834046
MSV3d	rs386834046
GWAS Ctlg	rs386834046

Max Magnitude

0

ClinVar
Risk	rs386834046(-;-)
Alt	rs386834046(-;-)
Reference	Rs386834046(ACTGCCA;ACTGCCA)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 1
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1
Reversed	1
HGVS	NC_000017.10:g.56295981_56295987delTGGCAGT
CLNSRC	ClinVar
CLNACC	RCV000050032.1,

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