rs1057516054

Orientation

minus

Stabilized

minus

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

Make rs1057516054(G;G)

Make rs1057516054(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

10405626

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs1057516054
dbSNP (classic)	rs1057516054
ClinGen	rs1057516054
ebi	rs1057516054
HLI	rs1057516054
Exac	rs1057516054
Gnomad	rs1057516054
Varsome	rs1057516054
LitVar	rs1057516054
Map	rs1057516054
PheGenI	rs1057516054
Biobank	rs1057516054
1000 genomes	rs1057516054
hgdp	rs1057516054
ensembl	rs1057516054
geneview	rs1057516054
scholar	rs1057516054
google	rs1057516054
pharmgkb	rs1057516054
gwascentral	rs1057516054
openSNP	rs1057516054
23andMe	rs1057516054
SNPshot	rs1057516054
SNPdbe	rs1057516054
MSV3d	rs1057516054
GWAS Ctlg	rs1057516054

Max Magnitude

0

ClinVar
Risk	rs1057516054(G;G)
Alt	rs1057516054(G;G)
Reference	Rs1057516054(T;T)
Significance	Pathogenic
Disease	McKusick Kaufman syndrome
Variation	info
Gene	MKKS
CLNDBN	McKusick Kaufman syndrome
Reversed	1
HGVS	NC_000020.10:g.10386274A>C
CLNSRC
CLNACC	RCV000408846.1,