rs74315395

Orientation

minus

Stabilized

minus

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

Make rs74315395(C;T)

Make rs74315395(T;T)

Reference

GRCh37 37.1/132

Chromosome

20

Position

10393913

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs74315395
dbSNP (classic)	rs74315395
ClinGen	rs74315395
ebi	rs74315395
HLI	rs74315395
Exac	rs74315395
Gnomad	rs74315395
Varsome	rs74315395
LitVar	rs74315395
Map	rs74315395
PheGenI	rs74315395
Biobank	rs74315395
1000 genomes	rs74315395
hgdp	rs74315395
ensembl	rs74315395
geneview	rs74315395
scholar	rs74315395
google	rs74315395
pharmgkb	rs74315395
gwascentral	rs74315395
openSNP	rs74315395
23andMe	rs74315395
SNPshot	rs74315395
SNPdbe	rs74315395
MSV3d	rs74315395
GWAS Ctlg	rs74315395

Status

Deleted

Max Magnitude

0

OMIM	604896
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315395(T;T)
Alt	rs74315395(T;T)
Reference	Rs74315395(C;C)
Significance	Pathogenic
Disease	McKusick Kaufman syndrome
Variation	info
Gene	MKKS
CLNDBN	McKusick Kaufman syndrome
Reversed	1
HGVS	NC_000020.10:g.10393913G>A
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000025814.1,