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rs374815903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374815903(C;T)
Make rs374815903(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position227118688
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs374815903
dbSNP (classic)rs374815903
ClinGenrs374815903
ebirs374815903
HLIrs374815903
Exacrs374815903
Gnomadrs374815903
Varsomers374815903
LitVarrs374815903
Maprs374815903
PheGenIrs374815903
Biobankrs374815903
1000 genomesrs374815903
hgdprs374815903
ensemblrs374815903
geneviewrs374815903
scholarrs374815903
googlers374815903
pharmgkbrs374815903
gwascentralrs374815903
openSNPrs374815903
23andMers374815903
SNPshotrs374815903
SNPdbers374815903
MSV3drs374815903
GWAS Ctlgrs374815903
Max Magnitude0
ClinVar
Risk rs374815903(A;A) rs374815903(T;T)
Alt rs374815903(A;A) rs374815903(T;T)
Reference Rs374815903(C;C)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.227983404C>A
CLNSRC
CLNACC RCV000408863.1,