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rs113994192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs113994192(A;G)
Make rs113994192(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72712242
GeneBBS4
is asnp
is mentioned by
dbSNPrs113994192
ebirs113994192
HLIrs113994192
Exacrs113994192
Varsomers113994192
Maprs113994192
PheGenIrs113994192
hapmaprs113994192
1000 genomesrs113994192
hgdprs113994192
ensemblrs113994192
gopubmedrs113994192
geneviewrs113994192
scholarrs113994192
googlers113994192
pharmgkbrs113994192
gwascentralrs113994192
openSNPrs113994192
23andMers113994192
23andMe allrs113994192
SNP Nexus

SNPshotrs113994192
SNPdbers113994192
MSV3drs113994192
GWAS Ctlgrs113994192
Max Magnitude0
OMIM600374
Desc
Variant0003
Relatedalso

[PMID 11567139] Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.


[PMID 12016587OA-icon.png] BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

ClinVar
Risk rs113994192(G;G)
Alt rs113994192(G;G)
Reference rs113994192(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Reversed 0
HGVS NC_000015.9:g.73004583A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009718.3, RCV000020932.1,