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rs148642312

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs148642312(A;A)
Make rs148642312(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5721061
GeneRNF216
is asnp
is mentioned by
dbSNPrs148642312
ebirs148642312
HLIrs148642312
Exacrs148642312
Varsomers148642312
Maprs148642312
PheGenIrs148642312
hapmaprs148642312
1000 genomesrs148642312
hgdprs148642312
ensemblrs148642312
gopubmedrs148642312
geneviewrs148642312
scholarrs148642312
googlers148642312
pharmgkbrs148642312
gwascentralrs148642312
openSNPrs148642312
23andMers148642312
23andMe allrs148642312
SNP Nexus

SNPshotrs148642312
SNPdbers148642312
MSV3drs148642312
GWAS Ctlgrs148642312
Max Magnitude0
ClinVar
Risk rs148642312(A,C;A,C)
Alt rs148642312(A,C;A,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,