{{Rsnum
|rsid=41309764
|Chromosome=9
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NOTCH1
|position=136508238
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NOTCH1
}}[[rs41309764]], also known as R1108X, is a SNP in the [[NOTCH1]] gene. The common allele is [[rs41309764]](C), while the rare [[rs41309764]](T) allele encodes the variant.

A normal human heart contains three valves. Carriers of one [[rs41309764]](T) allele, such as [http://en.wikipedia.org/wiki/Arnold_Schwarzenegger Arnold Schwarzenegger], will develop an early developmental defect in the aortic valve leading to a [[bicuspid aortic valve]], and without treatment, they are prone to progressive aortic valve disease in their later life due to calcification.{{PMID|16025100}}

{{omim
|id=190198
|rsnum=41309764
|variant=0001
}}

{{ClinVar
|rsid=41309764
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=139402690
|CHROM=9
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050060000000000502110100
|GENEINFO=NOTCH1:4851
|GENE_NAME=NOTCH1
|GENE_ID=4851
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.139402690G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=190198.0001
|CLNSIG=5
|CLNCUI=C1260873
|CLNDBN=Aortic valve disorder
|Disease=Aortic valve disorder
|CLNACC=RCV000013294.22
|Tags=RV;PM;HD;GNO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1260873:109730:8722008
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}