rs587776517

Orientation

plus

Stabilized

plus

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

Make rs587776517(-;-)

Make rs587776517(-;AGGTATCAATTACA)

Make rs587776517(AGGTATCAATTACA;AGGTATCAATTACA)

Reference

GRCh38 38.1/142

Chromosome

6

Position

116911041

Gene

RFX6

is a	snp
is	mentioned by
dbSNP	rs587776517
dbSNP (classic)	rs587776517
ClinGen	rs587776517
ebi	rs587776517
HLI	rs587776517
Exac	rs587776517
Gnomad	rs587776517
Varsome	rs587776517
LitVar	rs587776517
Map	rs587776517
PheGenI	rs587776517
Biobank	rs587776517
1000 genomes	rs587776517
hgdp	rs587776517
ensembl	rs587776517
geneview	rs587776517
scholar	rs587776517
google	rs587776517
pharmgkb	rs587776517
gwascentral	rs587776517
openSNP	rs587776517
23andMe	rs587776517
SNPshot	rs587776517
SNPdbe	rs587776517
MSV3d	rs587776517
GWAS Ctlg	rs587776517

Max Magnitude

0

ClinVar
Risk	rs587776517(-;-)
Alt	rs587776517(-;-)
Reference	Rs587776517(ACAAGGTATCAATT;ACAAGGTATCAATT)
Significance	Pathogenic
Disease	Mitchell-Riley syndrome
Variation	info
Gene	RFX6
CLNDBN	Mitchell-Riley syndrome
Reversed	0
HGVS	NC_000006.11:g.117232204_117232217delAGGTATCAATTACA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000530.3,