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rs1057520305

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CCGC;CCGC) 0 common in clinvar
Make rs1057520305(-;-)
Make rs1057520305(-;CCGC)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position109783753
GeneTRPV4
is asnp
is mentioned by
dbSNPrs1057520305
dbSNP (old)rs1057520305
ClinGenrs1057520305
ebirs1057520305
HLIrs1057520305
Exacrs1057520305
Gnomadrs1057520305
Varsomers1057520305
Maprs1057520305
PheGenIrs1057520305
Biobankrs1057520305
1000 genomesrs1057520305
hgdprs1057520305
ensemblrs1057520305
gopubmedrs1057520305
geneviewrs1057520305
scholarrs1057520305
googlers1057520305
pharmgkbrs1057520305
gwascentralrs1057520305
openSNPrs1057520305
23andMers1057520305
23andMe allrs1057520305
SNPshotrs1057520305
SNPdbers1057520305
MSV3drs1057520305
GWAS Ctlgrs1057520305
Max Magnitude0
ClinVar
Risk rs1057520305(-;-)
Alt rs1057520305(-;-)
Reference Rs1057520305(CCGC;CCGC)
Significance Pathogenic
Disease Avascular necrosis of femoral head
Variation info
Gene TRPV4
CLNDBN Avascular necrosis of femoral head, primary, 2
Reversed 1
HGVS NC_000012.11:g.110221558_110221561delGCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000435546.1,