rs113994195

Orientation

minus

Stabilized

minus

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

Make rs113994195(-;-)

Make rs113994195(-;TTAGTAGTACT)

Reference

GRCh38 38.1/141

Chromosome

20

Position

10413074

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs113994195
dbSNP (classic)	rs113994195
ClinGen	rs113994195
ebi	rs113994195
HLI	rs113994195
Exac	rs113994195
Gnomad	rs113994195
Varsome	rs113994195
LitVar	rs113994195
Map	rs113994195
PheGenI	rs113994195
Biobank	rs113994195
1000 genomes	rs113994195
hgdp	rs113994195
ensembl	rs113994195
geneview	rs113994195
scholar	rs113994195
google	rs113994195
pharmgkb	rs113994195
gwascentral	rs113994195
openSNP	rs113994195
23andMe	rs113994195
SNPshot	rs113994195
SNPdbe	rs113994195
MSV3d	rs113994195
GWAS Ctlg	rs113994195

Max Magnitude

0

ClinVar
Risk	rs113994195(-;-)
Alt	rs113994195(-;-)
Reference	Rs113994195(TTAGTAGTACT;TTAGTAGTACT)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome
Variation	info
Gene	MKKS
CLNDBN	Bardet-Biedl syndrome
Reversed	1
HGVS	NC_000020.10:g.10393722_10393732delAGTACTACTAA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020860.1,

[PMID 12107442] Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.