rs148642312

Orientation

plus

Stabilized

plus

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

Make rs148642312(A;A)

Make rs148642312(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

5721061

Gene

RNF216

is a	snp
is	mentioned by
dbSNP	rs148642312
dbSNP (classic)	rs148642312
ClinGen	rs148642312
ebi	rs148642312
HLI	rs148642312
Exac	rs148642312
Gnomad	rs148642312
Varsome	rs148642312
LitVar	rs148642312
Map	rs148642312
PheGenI	rs148642312
Biobank	rs148642312
1000 genomes	rs148642312
hgdp	rs148642312
ensembl	rs148642312
geneview	rs148642312
scholar	rs148642312
google	rs148642312
pharmgkb	rs148642312
gwascentral	rs148642312
openSNP	rs148642312
23andMe	rs148642312
SNPshot	rs148642312
SNPdbe	rs148642312
MSV3d	rs148642312
GWAS Ctlg	rs148642312

Max Magnitude

0

ClinVar
Risk	rs148642312(A;A) rs148642312(C;C)
Alt	rs148642312(A;A) rs148642312(C;C)
Reference	Rs148642312(T;T)
Significance	Pathogenic
Disease	Gordon Holmes syndrome
Variation	info
Gene	RNF216
CLNDBN	Gordon Holmes syndrome
Reversed	0
HGVS	NC_000007.13:g.5760692T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000180795.2,