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rs730882248

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882248(A;A)
Make rs730882248(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5711761
GeneMIR6874, RNF216
is asnp
is mentioned by
dbSNPrs730882248
ebirs730882248
HLIrs730882248
Exacrs730882248
Varsomers730882248
Maprs730882248
PheGenIrs730882248
hapmaprs730882248
1000 genomesrs730882248
hgdprs730882248
ensemblrs730882248
gopubmedrs730882248
geneviewrs730882248
scholarrs730882248
googlers730882248
pharmgkbrs730882248
gwascentralrs730882248
openSNPrs730882248
23andMers730882248
23andMe allrs730882248
SNP Nexus

SNPshotrs730882248
SNPdbers730882248
MSV3drs730882248
GWAS Ctlgrs730882248
Max Magnitude0
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,