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rs1060499797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499797(A;A)
Make rs1060499797(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position108903149
GeneGPSM2
is asnp
is mentioned by
dbSNPrs1060499797
dbSNP (old)rs1060499797
ClinGenrs1060499797
ebirs1060499797
HLIrs1060499797
Exacrs1060499797
Gnomadrs1060499797
Varsomers1060499797
Maprs1060499797
PheGenIrs1060499797
Biobankrs1060499797
1000 genomesrs1060499797
hgdprs1060499797
ensemblrs1060499797
gopubmedrs1060499797
geneviewrs1060499797
scholarrs1060499797
googlers1060499797
pharmgkbrs1060499797
gwascentralrs1060499797
openSNPrs1060499797
23andMers1060499797
23andMe allrs1060499797
SNPshotrs1060499797
SNPdbers1060499797
MSV3drs1060499797
GWAS Ctlgrs1060499797
Max Magnitude0
ClinVar
Risk rs1060499797(A;A)
Alt rs1060499797(A;A)
Reference Rs1060499797(G;G)
Significance Pathogenic
Disease Autosomal recessive non-syndromic sensorineural deafness type DFNB
Variation info
Gene GPSM2
CLNDBN Autosomal recessive non-syndromic sensorineural deafness type DFNB
Reversed 0
HGVS NC_000001.10:g.109445771G>A
CLNSRC
CLNACC RCV000454299.1,