rs730882120

Orientation

minus

Stabilized

minus

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

Make rs730882120(A;G)

Make rs730882120(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

58207110

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs730882120
dbSNP (classic)	rs730882120
ClinGen	rs730882120
ebi	rs730882120
HLI	rs730882120
Exac	rs730882120
Gnomad	rs730882120
Varsome	rs730882120
LitVar	rs730882120
Map	rs730882120
PheGenI	rs730882120
Biobank	rs730882120
1000 genomes	rs730882120
hgdp	rs730882120
ensembl	rs730882120
geneview	rs730882120
scholar	rs730882120
google	rs730882120
pharmgkb	rs730882120
gwascentral	rs730882120
openSNP	rs730882120
23andMe	rs730882120
SNPshot	rs730882120
SNPdbe	rs730882120
MSV3d	rs730882120
GWAS Ctlg	rs730882120

Max Magnitude

0

ClinVar
Risk	rs730882120(G;G)
Alt	rs730882120(G;G)
Reference	Rs730882120(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 13
Variation	info
Gene	MKS1
CLNDBN	Bardet-Biedl syndrome 13
Reversed	1
HGVS	NC_000017.10:g.56284471T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161134.3,