rs74315396

Orientation

minus

Stabilized

minus

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

Make rs74315396(A;G)

Make rs74315396(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

10413405

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs74315396
dbSNP (classic)	rs74315396
ClinGen	rs74315396
ebi	rs74315396
HLI	rs74315396
Exac	rs74315396
Gnomad	rs74315396
Varsome	rs74315396
LitVar	rs74315396
Map	rs74315396
PheGenI	rs74315396
Biobank	rs74315396
1000 genomes	rs74315396
hgdp	rs74315396
ensembl	rs74315396
geneview	rs74315396
scholar	rs74315396
google	rs74315396
pharmgkb	rs74315396
gwascentral	rs74315396
openSNP	rs74315396
23andMe	rs74315396
SNPshot	rs74315396
SNPdbe	rs74315396
MSV3d	rs74315396
GWAS Ctlg	rs74315396

Max Magnitude

0

OMIM	604896
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74315396(G;G)
Alt	rs74315396(G;G)
Reference	Rs74315396(A;A)
Significance	Pathogenic
Disease	McKusick Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-biedl syndrome 2/6
Variation	info
Gene	MKKS
CLNDBN	McKusick Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-biedl syndrome 2/6, digenic
Reversed	1
HGVS	NC_000020.10:g.10394053T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005633.5, RCV000005634.4, RCV000144678.3,