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rs1057518972

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518972(A;A)
Make rs1057518972(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position115418359
GeneTRPS1
is asnp
is mentioned by
dbSNPrs1057518972
dbSNP (old)rs1057518972
ClinGenrs1057518972
ebirs1057518972
HLIrs1057518972
Exacrs1057518972
Gnomadrs1057518972
Varsomers1057518972
Maprs1057518972
PheGenIrs1057518972
Biobankrs1057518972
1000 genomesrs1057518972
hgdprs1057518972
ensemblrs1057518972
gopubmedrs1057518972
geneviewrs1057518972
scholarrs1057518972
googlers1057518972
pharmgkbrs1057518972
gwascentralrs1057518972
openSNPrs1057518972
23andMers1057518972
23andMe allrs1057518972
SNPshotrs1057518972
SNPdbers1057518972
MSV3drs1057518972
GWAS Ctlgrs1057518972
Max Magnitude0
ClinVar
Risk rs1057518972(A;A)
Alt rs1057518972(A;A)
Reference Rs1057518972(G;G)
Significance Probable-Pathogenic
Disease Alopecia areata Brachydactyly syndrome Pear-shaped nose Proportionate short stature
Variation info
Gene TRPS1
CLNDBN Alopecia areata Brachydactyly syndrome Pear-shaped nose Proportionate short stature
Reversed 1
HGVS NC_000008.10:g.116430587C>T
CLNSRC
CLNACC RCV000415011.1,