Have questions? Visit https://www.reddit.com/r/SNPedia

rs201738997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a mutation for Stargardt disease
(T;T) 0 common in clinvar


Make rs201738997(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94121045
GeneABCA4
is asnp
is mentioned by
dbSNPrs201738997
dbSNP (classic)rs201738997
ClinGenrs201738997
ebirs201738997
HLIrs201738997
Exacrs201738997
Gnomadrs201738997
Varsomers201738997
LitVarrs201738997
Maprs201738997
PheGenIrs201738997
Biobankrs201738997
1000 genomesrs201738997
hgdprs201738997
ensemblrs201738997
geneviewrs201738997
scholarrs201738997
googlers201738997
pharmgkbrs201738997
gwascentralrs201738997
openSNPrs201738997
23andMers201738997
SNPshotrs201738997
SNPdbers201738997
MSV3drs201738997
GWAS Ctlgrs201738997
Max Magnitude3
ClinVar
Risk rs201738997(C;C)
Alt rs201738997(C;C)
Reference Rs201738997(T;T)
Significance Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 0
HGVS NC_000001.10:g.94586601T>C
CLNSRC
CLNACC RCV000085454.2, RCV000408483.1, RCV000408532.1,