rs267606793

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a retinitis pigmentosa 28 mutation

Make rs267606793(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

61836075

Gene

FAM161A

is a	snp
is	mentioned by
dbSNP	rs267606793
dbSNP (classic)	rs267606793
ClinGen	rs267606793
ebi	rs267606793
HLI	rs267606793
Exac	rs267606793
Gnomad	rs267606793
Varsome	rs267606793
LitVar	rs267606793
Map	rs267606793
PheGenI	rs267606793
Biobank	rs267606793
1000 genomes	rs267606793
hgdp	rs267606793
ensembl	rs267606793
geneview	rs267606793
scholar	rs267606793
google	rs267606793
pharmgkb	rs267606793
gwascentral	rs267606793
openSNP	rs267606793
23andMe	rs267606793
SNPshot	rs267606793
SNPdbe	rs267606793
MSV3d	rs267606793
GWAS Ctlg	rs267606793

Max Magnitude

3

aka c.1786C>T (p.Arg596Ter or R596X)

ClinVar
Risk	rs267606793(T;T)
Alt	rs267606793(T;T)
Reference	Rs267606793(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 28
Variation	info
Gene	FAM161A
CLNDBN	Retinitis pigmentosa 28
Reversed	1
HGVS	NC_000002.11:g.62063210G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000056.2,