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rs869312180

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312180(G;TTAACTTGGCAT)
Make rs869312180(TTAACTTGGCAT;TTAACTTGGCAT)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216073259
GeneLOC102723833, USH2A
is asnp
is mentioned by
dbSNPrs869312180
ebirs869312180
HLIrs869312180
Exacrs869312180
Varsomers869312180
Maprs869312180
PheGenIrs869312180
hapmaprs869312180
1000 genomesrs869312180
hgdprs869312180
ensemblrs869312180
gopubmedrs869312180
geneviewrs869312180
scholarrs869312180
googlers869312180
pharmgkbrs869312180
gwascentralrs869312180
openSNPrs869312180
23andMers869312180
23andMe allrs869312180
SNP Nexus

SNPshotrs869312180
SNPdbers869312180
MSV3drs869312180
GWAS Ctlgrs869312180
Max Magnitude0
ClinVar
Risk rs869312180(TTAACTTGGCAT;TTAACTTGGCAT)
Alt rs869312180(TTAACTTGGCAT;TTAACTTGGCAT)
Reference rs869312180(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene LOC102723833 USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216246601delCinsATGCCAAGTTAA
CLNSRC
CLNACC RCV000210302.1,