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rs869320692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320692(-;-)
Make rs869320692(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position477347
GeneLOC100288152, SLC9A3
is asnp
is mentioned by
dbSNPrs869320692
dbSNP (classic)rs869320692
ClinGenrs869320692
ebirs869320692
HLIrs869320692
Exacrs869320692
Gnomadrs869320692
Varsomers869320692
LitVarrs869320692
Maprs869320692
PheGenIrs869320692
Biobankrs869320692
1000 genomesrs869320692
hgdprs869320692
ensemblrs869320692
geneviewrs869320692
scholarrs869320692
googlers869320692
pharmgkbrs869320692
gwascentralrs869320692
openSNPrs869320692
23andMers869320692
SNPshotrs869320692
SNPdbers869320692
MSV3drs869320692
GWAS Ctlgrs869320692
Max Magnitude0
ClinVar
Risk rs869320692(-;-)
Alt rs869320692(-;-)
Reference Rs869320692(C;C)
Significance Pathogenic
Disease Diarrhea 8
Variation info
Gene LOC100288152 SLC9A3
CLNDBN Diarrhea 8, secretory sodium, congenital
Reversed 1
HGVS NC_000005.9:g.477462delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000210220.2,