rs749737706

Merged into

rs386834043

Orientation

plus

Stabilized

plus

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

Make rs749737706(-;-)

Make rs749737706(-;GCATGCCATTGGGACAGCCTCAGGTTTCT)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

58206553

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs749737706
dbSNP (classic)	rs749737706
ClinGen	rs749737706
ebi	rs749737706
HLI	rs749737706
Exac	rs749737706
Gnomad	rs749737706
Varsome	rs749737706
LitVar	rs749737706
Map	rs749737706
PheGenI	rs749737706
Biobank	rs749737706
1000 genomes	rs749737706
hgdp	rs749737706
ensembl	rs749737706
geneview	rs749737706
scholar	rs749737706
google	rs749737706
pharmgkb	rs749737706
gwascentral	rs749737706
openSNP	rs749737706
23andMe	rs749737706
SNPshot	rs749737706
SNPdbe	rs749737706
MSV3d	rs749737706
GWAS Ctlg	rs749737706

Status

Merged into rs386834043

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs749737706(GCATGCCATTGGGACAGCCTCAGGTTTCT;GCATGCCATTGGGACAGCCTCAGGTTTCT)
Significance	Pathogenic
Disease	Meckel-Gruber syndrome
Variation	info
Gene	MKS1
CLNDBN	Meckel-Gruber syndrome
Reversed	0
HGVS	NC_000017.10:g.56283914_56283942del29
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000168467.1,