rs74315394

Orientation

minus

Stabilized

minus

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

Make rs74315394(G;T)

Make rs74315394(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

10412791

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs74315394
dbSNP (classic)	rs74315394
ClinGen	rs74315394
ebi	rs74315394
HLI	rs74315394
Exac	rs74315394
Gnomad	rs74315394
Varsome	rs74315394
LitVar	rs74315394
Map	rs74315394
PheGenI	rs74315394
Biobank	rs74315394
1000 genomes	rs74315394
hgdp	rs74315394
ensembl	rs74315394
geneview	rs74315394
scholar	rs74315394
google	rs74315394
pharmgkb	rs74315394
gwascentral	rs74315394
openSNP	rs74315394
23andMe	rs74315394
SNPshot	rs74315394
SNPdbe	rs74315394
MSV3d	rs74315394
GWAS Ctlg	rs74315394

GMAF

0.002755

Max Magnitude

0

OMIM	604896
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315394(T;T)
Alt	rs74315394(T;T)
Reference	Rs74315394(G;G)
Significance	Pathogenic
Disease	McKusick Kaufman syndrome not specified not provided
Variation	info
Gene	MKKS
CLNDBN	McKusick Kaufman syndrome not specified not provided
Reversed	1
HGVS	NC_000020.10:g.10393439C>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005632.3, RCV000153503.3, RCV000436285.1,