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rs1800555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800555(A;A)
Make rs1800555(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position93998061
GeneABCA4
is asnp
is mentioned by
dbSNPrs1800555
ebirs1800555
HLIrs1800555
Exacrs1800555
Varsomers1800555
Maprs1800555
PheGenIrs1800555
hapmaprs1800555
1000 genomesrs1800555
hgdprs1800555
ensemblrs1800555
gopubmedrs1800555
geneviewrs1800555
scholarrs1800555
googlers1800555
pharmgkbrs1800555
gwascentralrs1800555
openSNPrs1800555
23andMers1800555
23andMe allrs1800555
SNP Nexus

SNPshotrs1800555
SNPdbers1800555
MSV3drs1800555
GWAS Ctlgrs1800555
GMAF0.006887
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM601691
Desc
Variant0006
Relatedalso


ClinVar
Risk rs1800555(A;A)
Alt rs1800555(A;A)
Reference rs1800555(G;G)
Significance Other
Disease MACULAR DEGENERATION not provided
Variation info
Gene ABCA4
CLNDBN MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO not provided
Reversed 1
HGVS NC_000001.10:g.94463617C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008336.2, RCV000085827.1,



GET Evidence
ABCA4-D2177N
aa_change Asp2177Asn
aa_change_short D2177N
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00892359
summary