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rs897471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 0 Considered to be benign by ClinVar
Make rs897471(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position21864961
GeneHSPG2
is asnp
is mentioned by
dbSNPrs897471
dbSNP (classic)rs897471
ClinGenrs897471
ebirs897471
HLIrs897471
Exacrs897471
Gnomadrs897471
Varsomers897471
LitVarrs897471
Maprs897471
PheGenIrs897471
Biobankrs897471
1000 genomesrs897471
hgdprs897471
ensemblrs897471
geneviewrs897471
scholarrs897471
googlers897471
pharmgkbrs897471
gwascentralrs897471
openSNPrs897471
23andMers897471
SNPshotrs897471
SNPdbers897471
MSV3drs897471
GWAS Ctlgrs897471
GMAF0.2576
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs897471(T;T)
Alt rs897471(T;T)
Reference Rs897471(C;C)
Significance Non-pathogenic
Disease Schwartz Jampel syndrome type 1 not specified Dyssegmental Dysplasia
Variation info
Gene HSPG2
CLNDBN Schwartz Jampel syndrome type 1 not specified Dyssegmental Dysplasia
Reversed 1
HGVS NC_000001.10:g.22191454G>A
CLNSRC
CLNACC RCV000274418.1, RCV000299057.1, RCV000371265.1,