rs387906647

Orientation

minus

Stabilized

minus

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

Make rs387906647(A;A)

Make rs387906647(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

10830612

Gene

MAK

is a	snp
is	mentioned by
dbSNP	rs387906647
dbSNP (classic)	rs387906647
ClinGen	rs387906647
ebi	rs387906647
HLI	rs387906647
Exac	rs387906647
Gnomad	rs387906647
Varsome	rs387906647
LitVar	rs387906647
Map	rs387906647
PheGenI	rs387906647
Biobank	rs387906647
1000 genomes	rs387906647
hgdp	rs387906647
ensembl	rs387906647
geneview	rs387906647
scholar	rs387906647
google	rs387906647
pharmgkb	rs387906647
gwascentral	rs387906647
openSNP	rs387906647
23andMe	rs387906647
SNPshot	rs387906647
SNPdbe	rs387906647
MSV3d	rs387906647
GWAS Ctlg	rs387906647

Max Magnitude

0

ClinVar
Risk	rs387906647(A;A) rs387906647(C;C)
Alt	rs387906647(A;A) rs387906647(C;C)
Reference	Rs387906647(G;G)
Significance	Pathogenic
Disease	Retinitis pigmentosa 62
Variation	info
Gene	MAK
CLNDBN	Retinitis pigmentosa 62
Reversed	1
HGVS	NC_000006.11:g.10830845C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022650.25,