rs121908970

Orientation

plus

Stabilized

plus

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

Make rs121908970(C;T)

Make rs121908970(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

18148133

Gene	LOC105371568, MYO15A

is a	snp
is	mentioned by
dbSNP	rs121908970
dbSNP (classic)	rs121908970
ClinGen	rs121908970
ebi	rs121908970
HLI	rs121908970
Exac	rs121908970
Gnomad	rs121908970
Varsome	rs121908970
LitVar	rs121908970
Map	rs121908970
PheGenI	rs121908970
Biobank	rs121908970
1000 genomes	rs121908970
hgdp	rs121908970
ensembl	rs121908970
geneview	rs121908970
scholar	rs121908970
google	rs121908970
pharmgkb	rs121908970
gwascentral	rs121908970
openSNP	rs121908970
23andMe	rs121908970
SNPshot	rs121908970
SNPdbe	rs121908970
MSV3d	rs121908970
GWAS Ctlg	rs121908970

GMAF

0.001377

Max Magnitude

0

OMIM	602666
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908970(T;T)
Alt	rs121908970(T;T)
Reference	Rs121908970(C;C)
Significance	Pathogenic
Disease	Deafness not specified
Variation	info
Gene	MYO15A
CLNDBN	Deafness, with smith-magenis syndrome not specified
Reversed	0
HGVS	NC_000017.10:g.18051447C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007371.2, RCV000038978.3,