rs121908106

Orientation

minus

Stabilized

minus

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

Make rs121908106(C;T)

Make rs121908106(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

49936276

Gene

MYO5B

is a	snp
is	mentioned by
dbSNP	rs121908106
dbSNP (classic)	rs121908106
ClinGen	rs121908106
ebi	rs121908106
HLI	rs121908106
Exac	rs121908106
Gnomad	rs121908106
Varsome	rs121908106
LitVar	rs121908106
Map	rs121908106
PheGenI	rs121908106
Biobank	rs121908106
1000 genomes	rs121908106
hgdp	rs121908106
ensembl	rs121908106
geneview	rs121908106
scholar	rs121908106
google	rs121908106
pharmgkb	rs121908106
gwascentral	rs121908106
openSNP	rs121908106
23andMe	rs121908106
SNPshot	rs121908106
SNPdbe	rs121908106
MSV3d	rs121908106
GWAS Ctlg	rs121908106

Max Magnitude

0

OMIM	606540
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908106(T;T)
Alt	rs121908106(T;T)
Reference	Rs121908106(C;C)
Significance	Pathogenic
Disease	Congenital microvillous atrophy
Variation	info
Gene	MYO5B
CLNDBN	Congenital microvillous atrophy
Reversed	1
HGVS	NC_000018.9:g.47462646G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004474.2,