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rs730882187

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs730882187(AA;CC)
Make rs730882187(CC;CC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position135998188
GeneSLC9A6
is asnp
is mentioned by
dbSNPrs730882187
ebirs730882187
HLIrs730882187
Exacrs730882187
Varsomers730882187
Maprs730882187
PheGenIrs730882187
hapmaprs730882187
1000 genomesrs730882187
hgdprs730882187
ensemblrs730882187
gopubmedrs730882187
geneviewrs730882187
scholarrs730882187
googlers730882187
pharmgkbrs730882187
gwascentralrs730882187
openSNPrs730882187
23andMers730882187
23andMe allrs730882187
SNP Nexus

SNPshotrs730882187
SNPdbers730882187
MSV3drs730882187
GWAS Ctlgrs730882187
Max Magnitude0
ClinVar
Risk rs730882187(CC;CC)
Alt rs730882187(CC;CC)
Reference rs730882187(AA;AA)
Significance Pathogenic
Disease Christianson syndrome
Variation info
Gene SLC9A6
CLNDBN Christianson syndrome
Reversed 0
HGVS NC_000023.10:g.135080347_135080348delAAinsCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012233.12,