rs587776514

Orientation

plus

Stabilized

plus

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

Make rs587776514(C;C)

Make rs587776514(C;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

116877954

Gene

RFX6

is a	snp
is	mentioned by
dbSNP	rs587776514
dbSNP (classic)	rs587776514
ClinGen	rs587776514
ebi	rs587776514
HLI	rs587776514
Exac	rs587776514
Gnomad	rs587776514
Varsome	rs587776514
LitVar	rs587776514
Map	rs587776514
PheGenI	rs587776514
Biobank	rs587776514
1000 genomes	rs587776514
hgdp	rs587776514
ensembl	rs587776514
geneview	rs587776514
scholar	rs587776514
google	rs587776514
pharmgkb	rs587776514
gwascentral	rs587776514
openSNP	rs587776514
23andMe	rs587776514
SNPshot	rs587776514
SNPdbe	rs587776514
MSV3d	rs587776514
GWAS Ctlg	rs587776514

Max Magnitude

0

ClinVar
Risk	rs587776514(C;C)
Alt	rs587776514(C;C)
Reference	Rs587776514(T;T)
Significance	Pathogenic
Disease	Mitchell-Riley syndrome
Variation	info
Gene	RFX6
CLNDBN	Mitchell-Riley syndrome
Reversed	0
HGVS	NC_000006.11:g.117199117T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000525.3,