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rs1057518949

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518949(A;C)
Make rs1057518949(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position128398560
GeneIMPDH1
is asnp
is mentioned by
dbSNPrs1057518949
dbSNP (old)rs1057518949
ClinGenrs1057518949
ebirs1057518949
HLIrs1057518949
Exacrs1057518949
Gnomadrs1057518949
Varsomers1057518949
Maprs1057518949
PheGenIrs1057518949
Biobankrs1057518949
1000 genomesrs1057518949
hgdprs1057518949
ensemblrs1057518949
gopubmedrs1057518949
geneviewrs1057518949
scholarrs1057518949
googlers1057518949
pharmgkbrs1057518949
gwascentralrs1057518949
openSNPrs1057518949
23andMers1057518949
23andMe allrs1057518949
SNPshotrs1057518949
SNPdbers1057518949
MSV3drs1057518949
GWAS Ctlgrs1057518949
Max Magnitude0
ClinVar
Risk rs1057518949(C;C)
Alt rs1057518949(C;C)
Reference Rs1057518949(A;A)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene IMPDH1
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000007.13:g.128038614T>G
CLNSRC
CLNACC RCV000415244.1,