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rs201018751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201018751(A;G)
Make rs201018751(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position42375720
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs201018751
dbSNP (classic)rs201018751
ClinGenrs201018751
ebirs201018751
HLIrs201018751
Exacrs201018751
Gnomadrs201018751
Varsomers201018751
LitVarrs201018751
Maprs201018751
PheGenIrs201018751
Biobankrs201018751
1000 genomesrs201018751
hgdprs201018751
ensemblrs201018751
geneviewrs201018751
scholarrs201018751
googlers201018751
pharmgkbrs201018751
gwascentralrs201018751
openSNPrs201018751
23andMers201018751
SNPshotrs201018751
SNPdbers201018751
MSV3drs201018751
GWAS Ctlgrs201018751
Max Magnitude0
ClinVar
Risk rs201018751(G;G)
Alt rs201018751(G;G)
Reference Rs201018751(A;A)
Significance Probable-Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 0
HGVS NC_000021.8:g.43795829A>G
CLNSRC
CLNACC RCV000039341.3,