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rs730882184

From SNPedia

Orientationplus
Geno Mag Summary
(AAAGGAT;AAAGGAT) 0 common in clinvar
Make rs730882184(AAAGGAT;TTATTA)
Make rs730882184(TTATTA;TTATTA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position135091111
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs730882184
ebirs730882184
HLIrs730882184
Exacrs730882184
Varsomers730882184
Maprs730882184
PheGenIrs730882184
hapmaprs730882184
1000 genomesrs730882184
hgdprs730882184
ensemblrs730882184
gopubmedrs730882184
geneviewrs730882184
scholarrs730882184
googlers730882184
pharmgkbrs730882184
gwascentralrs730882184
openSNPrs730882184
23andMers730882184
23andMe allrs730882184
SNP Nexus

SNPshotrs730882184
SNPdbers730882184
MSV3drs730882184
GWAS Ctlgrs730882184
Max Magnitude0
ClinVar
Risk rs730882184(TTATTA;TTATTA)
Alt rs730882184(TTATTA;TTATTA)
Reference rs730882184(AAAGGAT;AAAGGAT)
Significance Pathogenic
Disease Warburg micro syndrome 1
Variation info
Gene RAB3GAP1
CLNDBN Warburg micro syndrome 1
Reversed 0
HGVS NC_000002.11:g.135848681_135848687delAAAGGATinsTTATTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007478.3,