rs199910690

Orientation

plus

Stabilized

plus

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

Make rs199910690(C;T)

Make rs199910690(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

58206158

Gene

MKS1

is a	snp
is	mentioned by
dbSNP	rs199910690
dbSNP (classic)	rs199910690
ClinGen	rs199910690
ebi	rs199910690
HLI	rs199910690
Exac	rs199910690
Gnomad	rs199910690
Varsome	rs199910690
LitVar	rs199910690
Map	rs199910690
PheGenI	rs199910690
Biobank	rs199910690
1000 genomes	rs199910690
hgdp	rs199910690
ensembl	rs199910690
geneview	rs199910690
scholar	rs199910690
google	rs199910690
pharmgkb	rs199910690
gwascentral	rs199910690
openSNP	rs199910690
23andMe	rs199910690
SNPshot	rs199910690
SNPdbe	rs199910690
MSV3d	rs199910690
GWAS Ctlg	rs199910690

Max Magnitude

0

ClinVar
Risk	rs199910690(T;T)
Alt	rs199910690(T;T)
Reference	Rs199910690(C;C)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 13 not specified
Variation	info
Gene	MKS1
CLNDBN	Bardet-Biedl syndrome 13 not specified
Reversed	0
HGVS	NC_000017.10:g.56283519C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161135.4, RCV000324288.1,