rs6434799

Homo sapiens
C>T
DNAH7 : Intron Variant
LOC105373819 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0288 (8633/29970,GnomAD)
C==0294 (8563/29116,TOPMED)
C==0328 (1645/5008,1000G)
C==0262 (1009/3854,ALSPAC)
C==0249 (925/3708,TWINSUK)
chr2:195800359 (GRCh38.p7) (2q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.195800359C>T
GRCh37.p13 chr 2NC_000002.11:g.196665083C>T

Gene: DNAH7, dynein axonemal heavy chain 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAH7 transcriptNM_018897.2:c.N/AIntron Variant
DNAH7 transcript variant X1XM_011511487.2:c.N/AIntron Variant
DNAH7 transcript variant X2XM_011511488.2:c.N/AIntron Variant
DNAH7 transcript variant X2XM_011511489.2:c.N/AIntron Variant
DNAH7 transcript variant X4XM_011511490.2:c.N/AIntron Variant
DNAH7 transcript variant X11XM_011511497.2:c.N/AIntron Variant
DNAH7 transcript variant X5XM_017004504.1:c.N/AIntron Variant
DNAH7 transcript variant X6XM_011511491.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X7XM_011511492.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X8XM_011511493.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X10XM_011511494.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X11XM_011511495.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X9XR_922968.2:n.N/AGenic Downstream Transcript Variant

Gene: LOC105373819, uncharacterized LOC105373819(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373819 transcriptXR_923736.2:n.N/AIntron Variant

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr2196675576196675812E07010493

Mpgyi