rs730880323

Orientation

minus

Stabilized

minus

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

Make rs730880323(-;CCCGG)

Make rs730880323(CCCGG;CCCGG)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

58219176

Gene	LOC105371841, MKS1

is a	snp
is	mentioned by
dbSNP	rs730880323
dbSNP (classic)	rs730880323
ClinGen	rs730880323
ebi	rs730880323
HLI	rs730880323
Exac	rs730880323
Gnomad	rs730880323
Varsome	rs730880323
LitVar	rs730880323
Map	rs730880323
PheGenI	rs730880323
Biobank	rs730880323
1000 genomes	rs730880323
hgdp	rs730880323
ensembl	rs730880323
geneview	rs730880323
scholar	rs730880323
google	rs730880323
pharmgkb	rs730880323
gwascentral	rs730880323
openSNP	rs730880323
23andMe	rs730880323
SNPshot	rs730880323
SNPdbe	rs730880323
MSV3d	rs730880323
GWAS Ctlg	rs730880323

Max Magnitude

0

ClinVar
Risk	rs730880323(CCCGG;CCCGG)
Alt	rs730880323(CCCGG;CCCGG)
Reference	Rs730880323(-;-)
Significance	Pathogenic
Disease	Meckel syndrome type 1
Variation	info
Gene	MKS1
CLNDBN	Meckel syndrome type 1
Reversed	1
HGVS	NC_000017.10:g.56296538_56296542dupCCGGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022412.3,