rs121908103

Orientation

minus

Stabilized

minus

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

Make rs121908103(G;G)

Make rs121908103(G;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

50036982

Gene

MYO5B

is a	snp
is	mentioned by
dbSNP	rs121908103
dbSNP (classic)	rs121908103
ClinGen	rs121908103
ebi	rs121908103
HLI	rs121908103
Exac	rs121908103
Gnomad	rs121908103
Varsome	rs121908103
LitVar	rs121908103
Map	rs121908103
PheGenI	rs121908103
Biobank	rs121908103
1000 genomes	rs121908103
hgdp	rs121908103
ensembl	rs121908103
geneview	rs121908103
scholar	rs121908103
google	rs121908103
pharmgkb	rs121908103
gwascentral	rs121908103
openSNP	rs121908103
23andMe	rs121908103
SNPshot	rs121908103
SNPdbe	rs121908103
MSV3d	rs121908103
GWAS Ctlg	rs121908103

Max Magnitude

0

OMIM	606540
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908103(C;C) rs121908103(G;G)
Alt	rs121908103(C;C) rs121908103(G;G)
Reference	Rs121908103(T;T)
Significance	Pathogenic
Disease	Congenital microvillous atrophy
Variation	info
Gene	MYO5B
CLNDBN	Congenital microvillous atrophy
Reversed	1
HGVS	NC_000018.9:g.47563352A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004471.2,