rs74315399

Orientation

minus

Stabilized

minus

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

Make rs74315399(A;G)

Make rs74315399(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

10413346

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs74315399
dbSNP (classic)	rs74315399
ClinGen	rs74315399
ebi	rs74315399
HLI	rs74315399
Exac	rs74315399
Gnomad	rs74315399
Varsome	rs74315399
LitVar	rs74315399
Map	rs74315399
PheGenI	rs74315399
Biobank	rs74315399
1000 genomes	rs74315399
hgdp	rs74315399
ensembl	rs74315399
geneview	rs74315399
scholar	rs74315399
google	rs74315399
pharmgkb	rs74315399
gwascentral	rs74315399
openSNP	rs74315399
23andMe	rs74315399
SNPshot	rs74315399
SNPdbe	rs74315399
MSV3d	rs74315399
GWAS Ctlg	rs74315399

Max Magnitude

0

OMIM	604896
Desc
Variant	0010
Related	also

ClinVar
Risk	rs74315399(G;G)
Alt	rs74315399(G;G)
Reference	Rs74315399(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 6
Variation	info
Gene	MKKS
CLNDBN	Bardet-Biedl syndrome 6
Reversed	1
HGVS	NC_000020.10:g.10393994T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005641.4,