rs672949

Homo sapiens
C>T
COL4A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0312 (9356/29930,GnomAD)
T=0301 (8779/29118,TOPMED)
T=0269 (1347/5008,1000G)
T=0337 (1297/3854,ALSPAC)
T=0340 (1262/3708,TWINSUK)
chr13:110227207 (GRCh38.p7) (13q34)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.110227207C>T
GRCh37.p13 chr 13NC_000013.10:g.110879554C>T
COL4A1 RefSeqGeneNG_011544.2:g.84943G>A

Gene: COL4A1, collagen type IV alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COL4A1 transcript variant 2NM_001303110.1:c.N/AIntron Variant
COL4A1 transcript variant 1NM_001845.5:c.N/AIntron Variant
COL4A1 transcript variant X1XM_011521048.2:c.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 )
chr13110867934110871618E067-7936
chr13110867934110871618E068-7936
chr13110919305110919870E06839751
chr13110867934110871618E069-7936
chr13110873718110874887E069-4667
chr13110836126110836196E070-43358
chr13110836199110836821E070-42733
chr13110851517110851777E070-27777
chr13110851903110852160E070-27394
chr13110919305110919870E07039751
chr13110867934110871618E071-7936
chr13110873718110874887E071-4667
chr13110919305110919870E07139751
chr13110920938110921048E07141384
chr13110851903110852160E072-27394
chr13110867934110871618E072-7936
chr13110917719110919165E07238165
chr13110867117110867311E073-12243
chr13110867440110867539E073-12015
chr13110867645110867815E073-11739
chr13110867934110871618E073-7936
chr13110884575110884783E0735021
chr13110914136110914261E07334582
chr13110917719110919165E07338165
chr13110867934110871618E074-7936
chr13110898839110899300E08119285
chr13110899453110900927E08119899
chr13110900961110901066E08121407
chr13110919305110919870E08139751
chr13110919929110920043E08140375
chr13110898839110899300E08219285
chr13110917209110917648E08237655
chr13110917719110919165E08238165
chr13110920413110920473E08240859










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