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rs606231120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231120(A;A)
Make rs606231120(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position43020345
GeneGRXCR1
is asnp
is mentioned by
dbSNPrs606231120
dbSNP (classic)rs606231120
ClinGenrs606231120
ebirs606231120
HLIrs606231120
Exacrs606231120
Gnomadrs606231120
Varsomers606231120
LitVarrs606231120
Maprs606231120
PheGenIrs606231120
Biobankrs606231120
1000 genomesrs606231120
hgdprs606231120
ensemblrs606231120
geneviewrs606231120
scholarrs606231120
googlers606231120
pharmgkbrs606231120
gwascentralrs606231120
openSNPrs606231120
23andMers606231120
SNPshotrs606231120
SNPdbers606231120
MSV3drs606231120
GWAS Ctlgrs606231120
Max Magnitude0
ClinVar
Risk rs606231120(A;A) rs606231120(T;T)
Alt rs606231120(A;A) rs606231120(T;T)
Reference Rs606231120(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene GRXCR1
CLNDBN Deafness, autosomal recessive 25
Reversed 0
HGVS NC_000004.11:g.43022362C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000216.2,