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rs104893767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893767(C;C)
Make rs104893767(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position71784959
GeneLOC105377156, PROK2
is asnp
is mentioned by
dbSNPrs104893767
dbSNP (classic)rs104893767
ClinGenrs104893767
ebirs104893767
HLIrs104893767
Exacrs104893767
Gnomadrs104893767
Varsomers104893767
LitVarrs104893767
Maprs104893767
PheGenIrs104893767
Biobankrs104893767
1000 genomesrs104893767
hgdprs104893767
ensemblrs104893767
geneviewrs104893767
scholarrs104893767
googlers104893767
pharmgkbrs104893767
gwascentralrs104893767
openSNPrs104893767
23andMers104893767
SNPshotrs104893767
SNPdbers104893767
MSV3drs104893767
GWAS Ctlgrs104893767
Max Magnitude0
OMIM607002
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893767(C;C)
Alt rs104893767(C;C)
Reference Rs104893767(G;G)
Significance Pathogenic
Disease Kallmann syndrome 4
Variation info
Gene PROK2
CLNDBN Kallmann syndrome 4
Reversed 1
HGVS NC_000003.11:g.71834110C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003784.3,