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rs1057520299

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520299(A;A)
Make rs1057520299(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position64976325
GeneZC4H2
is asnp
is mentioned by
dbSNPrs1057520299
dbSNP (old)rs1057520299
ClinGenrs1057520299
ebirs1057520299
HLIrs1057520299
Exacrs1057520299
Gnomadrs1057520299
Varsomers1057520299
Maprs1057520299
PheGenIrs1057520299
Biobankrs1057520299
1000 genomesrs1057520299
hgdprs1057520299
ensemblrs1057520299
gopubmedrs1057520299
geneviewrs1057520299
scholarrs1057520299
googlers1057520299
pharmgkbrs1057520299
gwascentralrs1057520299
openSNPrs1057520299
23andMers1057520299
23andMe allrs1057520299
SNPshotrs1057520299
SNPdbers1057520299
MSV3drs1057520299
GWAS Ctlgrs1057520299
Max Magnitude0
ClinVar
Risk rs1057520299(A;A)
Alt rs1057520299(A;A)
Reference Rs1057520299(G;G)
Significance Pathogenic
Disease Wieacker syndrome
Variation info
Gene ZC4H2
CLNDBN Wieacker syndrome
Reversed 1
HGVS NC_000023.10:g.64196205C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000426615.1,