rs387907368

Orientation

minus

Stabilized

minus

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

Make rs387907368(C;T)

Make rs387907368(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5641285

Gene

RNF216

is a	snp
is	mentioned by
dbSNP	rs387907368
dbSNP (classic)	rs387907368
ClinGen	rs387907368
ebi	rs387907368
HLI	rs387907368
Exac	rs387907368
Gnomad	rs387907368
Varsome	rs387907368
LitVar	rs387907368
Map	rs387907368
PheGenI	rs387907368
Biobank	rs387907368
1000 genomes	rs387907368
hgdp	rs387907368
ensembl	rs387907368
geneview	rs387907368
scholar	rs387907368
google	rs387907368
pharmgkb	rs387907368
gwascentral	rs387907368
openSNP	rs387907368
23andMe	rs387907368
SNPshot	rs387907368
SNPdbe	rs387907368
MSV3d	rs387907368
GWAS Ctlg	rs387907368

Max Magnitude

0

ClinVar
Risk	rs387907368(T;T)
Alt	rs387907368(T;T)
Reference	Rs387907368(C;C)
Significance	Pathogenic
Disease	Gordon Holmes syndrome
Variation	info
Gene	RNF216
CLNDBN	Gordon Holmes syndrome
Reversed	1
HGVS	NC_000007.13:g.5680916G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043627.5,