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rs771723580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTGG;TTGG) 0 common in clinvar
Make rs771723580(-;-)
Make rs771723580(-;TTGG)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position35509303
GeneTULP1
is asnp
is mentioned by
dbSNPrs771723580
dbSNP (classic)rs771723580
ClinGenrs771723580
ebirs771723580
HLIrs771723580
Exacrs771723580
Gnomadrs771723580
Varsomers771723580
LitVarrs771723580
Maprs771723580
PheGenIrs771723580
Biobankrs771723580
1000 genomesrs771723580
hgdprs771723580
ensemblrs771723580
geneviewrs771723580
scholarrs771723580
googlers771723580
pharmgkbrs771723580
gwascentralrs771723580
openSNPrs771723580
23andMers771723580
SNPshotrs771723580
SNPdbers771723580
MSV3drs771723580
GWAS Ctlgrs771723580
Max Magnitude0
ClinVar
Risk rs771723580(-;-)
Alt rs771723580(-;-)
Reference Rs771723580(TTGG;TTGG)
Significance Pathogenic
Disease Leber congenital amaurosis 15
Variation info
Gene TULP1
CLNDBN Leber congenital amaurosis 15
Reversed 0
HGVS NC_000006.11:g.35477080_35477083delTTGG
CLNSRC
CLNACC RCV000180235.1,