rs113994196

Orientation

minus

Stabilized

minus

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

Make rs113994196(-;CCTG)

Make rs113994196(CCTG;CCTG)

Reference

GRCh38 38.1/141

Chromosome

20

Position

10412638

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs113994196
dbSNP (classic)	rs113994196
ClinGen	rs113994196
ebi	rs113994196
HLI	rs113994196
Exac	rs113994196
Gnomad	rs113994196
Varsome	rs113994196
LitVar	rs113994196
Map	rs113994196
PheGenI	rs113994196
Biobank	rs113994196
1000 genomes	rs113994196
hgdp	rs113994196
ensembl	rs113994196
geneview	rs113994196
scholar	rs113994196
google	rs113994196
pharmgkb	rs113994196
gwascentral	rs113994196
openSNP	rs113994196
23andMe	rs113994196
SNPshot	rs113994196
SNPdbe	rs113994196
MSV3d	rs113994196
GWAS Ctlg	rs113994196

Max Magnitude

0

ClinVar
Risk	rs113994196(CCTG;CCTG)
Alt	rs113994196(CCTG;CCTG)
Reference	Rs113994196(-;-)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome
Variation	info
Gene	MKKS
CLNDBN	Bardet-Biedl syndrome
Reversed	1
HGVS	NC_000020.10:g.10393286_10393287insCAGG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020862.1,

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