rs386834051

Orientation

minus

Stabilized

minus

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

Make rs386834051(-;CCGGG)

Make rs386834051(CCGGG;CCGGG)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58219175

Gene	LOC105371841, MKS1

is a	snp
is	mentioned by
dbSNP	rs386834051
dbSNP (classic)	rs386834051
ClinGen	rs386834051
ebi	rs386834051
HLI	rs386834051
Exac	rs386834051
Gnomad	rs386834051
Varsome	rs386834051
LitVar	rs386834051
Map	rs386834051
PheGenI	rs386834051
Biobank	rs386834051
1000 genomes	rs386834051
hgdp	rs386834051
ensembl	rs386834051
geneview	rs386834051
scholar	rs386834051
google	rs386834051
pharmgkb	rs386834051
gwascentral	rs386834051
openSNP	rs386834051
23andMe	rs386834051
SNPshot	rs386834051
SNPdbe	rs386834051
MSV3d	rs386834051
GWAS Ctlg	rs386834051

Max Magnitude

0

ClinVar
Risk	rs386834051(CCGGG;CCGGG)
Alt	rs386834051(CCGGG;CCGGG)
Reference	Rs386834051(-;-)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 1
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1
Reversed	1
HGVS	NC_000017.10:g.56296537_56296541dupCCCGG
CLNSRC	ClinVar
CLNACC	RCV000050038.1,

[PMID 16415886] MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.