rs387906646

Orientation

minus

Stabilized

minus

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

Make rs387906646(A;C)

Make rs387906646(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

10808913

Gene

MAK

is a	snp
is	mentioned by
dbSNP	rs387906646
dbSNP (classic)	rs387906646
ClinGen	rs387906646
ebi	rs387906646
HLI	rs387906646
Exac	rs387906646
Gnomad	rs387906646
Varsome	rs387906646
LitVar	rs387906646
Map	rs387906646
PheGenI	rs387906646
Biobank	rs387906646
1000 genomes	rs387906646
hgdp	rs387906646
ensembl	rs387906646
geneview	rs387906646
scholar	rs387906646
google	rs387906646
pharmgkb	rs387906646
gwascentral	rs387906646
openSNP	rs387906646
23andMe	rs387906646
SNPshot	rs387906646
SNPdbe	rs387906646
MSV3d	rs387906646
GWAS Ctlg	rs387906646

Max Magnitude

0

ClinVar
Risk	rs387906646(C;C)
Alt	rs387906646(C;C)
Reference	Rs387906646(A;A)
Significance	Pathogenic
Disease	Retinitis pigmentosa 62
Variation	info
Gene	MAK
CLNDBN	Retinitis pigmentosa 62
Reversed	1
HGVS	NC_000006.11:g.10809146T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022649.25,