rs556752387

Orientation

plus

Stabilized

plus

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

Make rs556752387(C;T)

Make rs556752387(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

26026879

Gene

MYO18B

is a	snp
is	mentioned by
dbSNP	rs556752387
dbSNP (classic)	rs556752387
ClinGen	rs556752387
ebi	rs556752387
HLI	rs556752387
Exac	rs556752387
Gnomad	rs556752387
Varsome	rs556752387
LitVar	rs556752387
Map	rs556752387
PheGenI	rs556752387
Biobank	rs556752387
1000 genomes	rs556752387
hgdp	rs556752387
ensembl	rs556752387
geneview	rs556752387
scholar	rs556752387
google	rs556752387
pharmgkb	rs556752387
gwascentral	rs556752387
openSNP	rs556752387
23andMe	rs556752387
SNPshot	rs556752387
SNPdbe	rs556752387
MSV3d	rs556752387
GWAS Ctlg	rs556752387

Max Magnitude

0

ClinVar
Risk	rs556752387(A;A) rs556752387(T;T)
Alt	rs556752387(A;A) rs556752387(T;T)
Reference	Rs556752387(C;C)
Significance	Pathogenic
Disease	Klippel-feil syndrome 4
Variation	info
Gene	MYO18B
CLNDBN	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
Reversed	0
HGVS	NC_000022.10:g.26422845C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190875.3,