rs730882248

Orientation

minus

Stabilized

minus

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

Make rs730882248(A;A)

Make rs730882248(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

5711761

Gene	MIR6874, RNF216

is a	snp
is	mentioned by
dbSNP	rs730882248
dbSNP (classic)	rs730882248
ClinGen	rs730882248
ebi	rs730882248
HLI	rs730882248
Exac	rs730882248
Gnomad	rs730882248
Varsome	rs730882248
LitVar	rs730882248
Map	rs730882248
PheGenI	rs730882248
Biobank	rs730882248
1000 genomes	rs730882248
hgdp	rs730882248
ensembl	rs730882248
geneview	rs730882248
scholar	rs730882248
google	rs730882248
pharmgkb	rs730882248
gwascentral	rs730882248
openSNP	rs730882248
23andMe	rs730882248
SNPshot	rs730882248
SNPdbe	rs730882248
MSV3d	rs730882248
GWAS Ctlg	rs730882248

Max Magnitude

0

ClinVar
Risk	rs730882248(A;A)
Alt	rs730882248(A;A)
Reference	Rs730882248(G;G)
Significance	Probable-Pathogenic
Disease	Hypogonadotrophic hypogonadism Leukodystrophy
Variation	info
Gene	MIR6874 RNF216
CLNDBN	Hypogonadotrophic hypogonadism Leukodystrophy
Reversed	1
HGVS	NC_000007.13:g.5751392C>T
CLNSRC
CLNACC	RCV000162188.1,