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rs398124646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124646(A;A)
Make rs398124646(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position185254016
GeneEHHADH, MIR5588
is asnp
is mentioned by
dbSNPrs398124646
dbSNP (classic)rs398124646
ClinGenrs398124646
ebirs398124646
HLIrs398124646
Exacrs398124646
Gnomadrs398124646
Varsomers398124646
LitVarrs398124646
Maprs398124646
PheGenIrs398124646
Biobankrs398124646
1000 genomesrs398124646
hgdprs398124646
ensemblrs398124646
geneviewrs398124646
scholarrs398124646
googlers398124646
pharmgkbrs398124646
gwascentralrs398124646
openSNPrs398124646
23andMers398124646
SNPshotrs398124646
SNPdbers398124646
MSV3drs398124646
GWAS Ctlgrs398124646
Max Magnitude0
ClinVar
Risk rs398124646(A;A)
Alt rs398124646(A;A)
Reference Rs398124646(G;G)
Significance Pathogenic
Disease Fanconi renotubular syndrome 3
Variation info
Gene MIR5588 EHHADH
CLNDBN Fanconi renotubular syndrome 3
Reversed 1
HGVS NC_000003.11:g.184971804C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000082871.2,