SNP Links for Nucleotide (Select 684625065) - SNP

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Select item 14915561101.

rs1491556110 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:234383033 (GRCh38)
1:234518780 (GRCh37)
Canonical SPDI:: NC_000001.11:234383033:GG:GGG
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.234383035dup, NC_000001.10:g.234518781dup, NG_034250.1:g.14599dup

Select item 14915207182.

rs1491520718 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:234384707 (GRCh38)
1:234520453 (GRCh37)
Canonical SPDI:: NC_000001.11:234384704:TGTG:TG
Gene:: COA6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.234384705TG[1], NC_000001.10:g.234520451TG[1], NG_034250.1:g.16269TG[1], NM_001206641.3:c.*887TG[1]

Select item 14913851783.

rs1491385178 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 1:234374113 (GRCh38)
1:234509860 (GRCh37)
Canonical SPDI:: NC_000001.11:234374113:TTTT:TTTTGTTTT
Gene:: COA6 (Varview), COA6-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTTGTTTT=0.00093/11 (ALFA)
HGVS:: NC_000001.11:g.234374114_234374117T[4]GTTTT[1], NC_000001.10:g.234509860_234509863T[4]GTTTT[1], NG_034250.1:g.5678_5681T[4]GTTTT[1], NM_001301733.1:c.-132_-129T[4]GTTTT[1]

Select item 14913651274.

rs1491365127 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:234370410 (GRCh38)
1:234506156 (GRCh37)
Canonical SPDI:: NC_000001.11:234370409:AT:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00015/3 (GnomAD)
HGVS:: NC_000001.11:g.234370410_234370411del, NC_000001.10:g.234506156_234506157del, NG_034250.1:g.1974_1975del

Select item 14913567195.

rs1491356719 has merged into rs61077059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:234374123 (GRCh38)
1:234509869 (GRCh37)
Canonical SPDI:: NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234374112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COA6 (Varview), COA6-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0464/179 (ALSPAC)
T=0.3878/1942 (1000Genomes)
T=0.4/16 (GENOME_DK)
-=0.4482/268 (NorthernSweden)
HGVS:: NC_000001.11:g.234374123_234374129del, NC_000001.11:g.234374124_234374129del, NC_000001.11:g.234374127_234374129del, NC_000001.11:g.234374128_234374129del, NC_000001.11:g.234374129del, NC_000001.11:g.234374129dup, NC_000001.11:g.234374128_234374129dup, NC_000001.11:g.234374126_234374129dup, NC_000001.11:g.234374124_234374129dup, NC_000001.11:g.234374123_234374129dup, NC_000001.11:g.234374122_234374129dup, NC_000001.11:g.234374113_234374129dup, NC_000001.10:g.234509869_234509875del, NC_000001.10:g.234509870_234509875del, NC_000001.10:g.234509873_234509875del, NC_000001.10:g.234509874_234509875del, NC_000001.10:g.234509875del, NC_000001.10:g.234509875dup, NC_000001.10:g.234509874_234509875dup, NC_000001.10:g.234509872_234509875dup, NC_000001.10:g.234509870_234509875dup, NC_000001.10:g.234509869_234509875dup, NC_000001.10:g.234509868_234509875dup, NC_000001.10:g.234509859_234509875dup, NG_034250.1:g.5687_5693del, NG_034250.1:g.5688_5693del, NG_034250.1:g.5691_5693del, NG_034250.1:g.5692_5693del, NG_034250.1:g.5693del, NG_034250.1:g.5693dup, NG_034250.1:g.5692_5693dup, NG_034250.1:g.5690_5693dup, NG_034250.1:g.5688_5693dup, NG_034250.1:g.5687_5693dup, NG_034250.1:g.5686_5693dup, NG_034250.1:g.5677_5693dup, NM_001301733.1:c.-123_-117del, NM_001301733.1:c.-122_-117del, NM_001301733.1:c.-119_-117del, NM_001301733.1:c.-118_-117del, NM_001301733.1:c.-117del, NM_001301733.1:c.-117dup, NM_001301733.1:c.-118_-117dup, NM_001301733.1:c.-120_-117dup, NM_001301733.1:c.-122_-117dup, NM_001301733.1:c.-123_-117dup, NM_001301733.1:c.-124_-117dup, NM_001301733.1:c.-133_-117dup

Select item 14913223536.

rs1491322353 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC,CCCTTTTTTTTTTTT,CCT,CCTT,CCTTT,CCTTTT,CCTTTTT,CCTTTTTT,CCTTTTTTT,CCTTTTTTTT,CCTTTTTTTTT,CCTTTTTTTTTT,CCTTTTTTTTTTT,CCTTTTTTTTTTTT,CCTTTTTTTTTTTTT,CCTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTGTT,CCTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:234370410 (GRCh38)
1:234506157 (GRCh37)
Canonical SPDI:: NC_000001.11:234370410::CC,NC_000001.11:234370410::CCCTTTTTTTTTTTT,NC_000001.11:234370410::CCT,NC_000001.11:234370410::CCTT,NC_000001.11:234370410::CCTTT,NC_000001.11:234370410::CCTTTT,NC_000001.11:234370410::CCTTTTT,NC_000001.11:234370410::CCTTTTTT,NC_000001.11:234370410::CCTTTTTTT,NC_000001.11:234370410::CCTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTGTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:234370410::CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.234370410_234370411insCC, NC_000001.11:g.234370410_234370411insCCCTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCT, NC_000001.11:g.234370410_234370411insCCTT, NC_000001.11:g.234370410_234370411insCCTTT, NC_000001.11:g.234370410_234370411insCCTTTT, NC_000001.11:g.234370410_234370411insCCTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTGTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.234370410_234370411insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCC, NC_000001.10:g.234506156_234506157insCCCTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCT, NC_000001.10:g.234506156_234506157insCCTT, NC_000001.10:g.234506156_234506157insCCTTT, NC_000001.10:g.234506156_234506157insCCTTTT, NC_000001.10:g.234506156_234506157insCCTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTGTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.234506156_234506157insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCC, NG_034250.1:g.1974_1975insCCCTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCT, NG_034250.1:g.1974_1975insCCTT, NG_034250.1:g.1974_1975insCCTTT, NG_034250.1:g.1974_1975insCCTTTT, NG_034250.1:g.1974_1975insCCTTTTT, NG_034250.1:g.1974_1975insCCTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTGTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034250.1:g.1974_1975insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913139317.

rs1491313931 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGGGTTCTGCATCC [Show Flanks]
Chromosome:: 1:234384705 (GRCh38)
1:234520452 (GRCh37)
Canonical SPDI:: NC_000001.11:234384705:GTGGGTTCTGCATCC:GTGGGTTCTGCATCCGTGGGTTCTGCATCC
Gene:: COA6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGGGTTCTGCATCCGTGGGTTCTGCATCC=0./0 (ALFA)
GTGGGTTCTGCATCC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.234384706_234384720dup, NC_000001.10:g.234520452_234520466dup, NG_034250.1:g.16270_16284dup, NM_001206641.3:c.*888_*902dup

Select item 14908046468.

rs1490804646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:234378664 (GRCh38)
1:234514410 (GRCh37)
Canonical SPDI:: NC_000001.11:234378663:A:G
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.234378664A>G, NC_000001.10:g.234514410A>G, NG_034250.1:g.10228A>G

Select item 14907938759.

rs1490793875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234380808 (GRCh38)
1:234516554 (GRCh37)
Canonical SPDI:: NC_000001.11:234380807:T:C
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.234380808T>C, NC_000001.10:g.234516554T>C, NG_034250.1:g.12372T>C

Select item 149066003010.

rs1490660030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234381138 (GRCh38)
1:234516884 (GRCh37)
Canonical SPDI:: NC_000001.11:234381137:T:C
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.234381138T>C, NC_000001.10:g.234516884T>C, NG_034250.1:g.12702T>C

Select item 149065188911.

rs1490651889 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 1:234379736 (GRCh38)
1:234515482 (GRCh37)
Canonical SPDI:: NC_000001.11:234379731:CTTCTTC:CTTC
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTC=0./0 (ALFA)
HGVS:: NC_000001.11:g.234379733TTC[1], NC_000001.10:g.234515479TTC[1], NG_034250.1:g.11297TTC[1]

Select item 149031243612.

rs1490312436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:234377629 (GRCh38)
1:234513375 (GRCh37)
Canonical SPDI:: NC_000001.11:234377628:T:C
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.234377629T>C, NC_000001.10:g.234513375T>C, NG_034250.1:g.9193T>C

Select item 149030274813.

rs1490302748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:234379806 (GRCh38)
1:234515552 (GRCh37)
Canonical SPDI:: NC_000001.11:234379805:A:C,NC_000001.11:234379805:A:G
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.234379806A>C, NC_000001.11:g.234379806A>G, NC_000001.10:g.234515552A>C, NC_000001.10:g.234515552A>G, NG_034250.1:g.11370A>C, NG_034250.1:g.11370A>G

Select item 149022715114.

rs1490227151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:234375750 (GRCh38)
1:234511496 (GRCh37)
Canonical SPDI:: NC_000001.11:234375749:C:G
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.234375750C>G, NC_000001.10:g.234511496C>G, NG_034250.1:g.7314C>G

Select item 148969034415.

rs1489690344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:234375937 (GRCh38)
1:234511683 (GRCh37)
Canonical SPDI:: NC_000001.11:234375936:G:A
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.234375937G>A, NC_000001.10:g.234511683G>A, NG_034250.1:g.7501G>A

Select item 148964878516.

rs1489648785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:234383819 (GRCh38)
1:234519565 (GRCh37)
Canonical SPDI:: NC_000001.11:234383818:G:A,NC_000001.11:234383818:G:T
Gene:: COA6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.234383819G>A, NC_000001.11:g.234383819G>T, NC_000001.10:g.234519565G>A, NC_000001.10:g.234519565G>T, NG_034250.1:g.15383G>A, NG_034250.1:g.15383G>T, NM_001206641.3:c.*1G>A, NM_001206641.3:c.*1G>T, NM_001206641.2:c.*1G>A, NM_001206641.2:c.*1G>T, NM_001206641.1:c.*1G>A, NM_001206641.1:c.*1G>T, NM_001012985.2:c.*1G>A, NM_001012985.2:c.*1G>T, NM_001301733.1:c.*1G>A, NM_001301733.1:c.*1G>T

Select item 148960111017.

rs1489601110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:234385120 (GRCh38)
1:234520866 (GRCh37)
Canonical SPDI:: NC_000001.11:234385119:G:A
Gene:: COA6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.234385120G>A, NC_000001.10:g.234520866G>A, NG_034250.1:g.16684G>A

Select item 148958631918.

rs1489586319 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAGAGA>- [Show Flanks]
Chromosome:: 1:234383015 (GRCh38)
1:234518761 (GRCh37)
Canonical SPDI:: NC_000001.11:234383011:AGAAAGAGAGA:AGA
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.234383015_234383022del, NC_000001.10:g.234518761_234518768del, NG_034250.1:g.14579_14586del

Select item 148956643519.

rs1489566435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:234380129 (GRCh38)
1:234515875 (GRCh37)
Canonical SPDI:: NC_000001.11:234380128:C:G
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.234380129C>G, NC_000001.10:g.234515875C>G, NG_034250.1:g.11693C>G

Select item 148930903220.

rs1489309032 has merged into rs60042887 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:234383585 (GRCh38)
1:234519331 (GRCh37)
Canonical SPDI:: NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:234383573:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA
Gene:: COA6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.234383575CA[5], NC_000001.11:g.234383575CA[6], NC_000001.11:g.234383575CA[7], NC_000001.11:g.234383575CA[8], NC_000001.11:g.234383575CA[9], NC_000001.11:g.234383575CA[10], NC_000001.11:g.234383575CA[11], NC_000001.11:g.234383575CA[13], NC_000001.11:g.234383575CA[14], NC_000001.11:g.234383575CA[15], NC_000001.11:g.234383575CA[16], NC_000001.11:g.234383575CA[17], NC_000001.11:g.234383575CA[18], NC_000001.11:g.234383575CA[19], NC_000001.11:g.234383575CA[20], NC_000001.11:g.234383575CA[21], NC_000001.11:g.234383575CA[22], NC_000001.10:g.234519321CA[5], NC_000001.10:g.234519321CA[6], NC_000001.10:g.234519321CA[7], NC_000001.10:g.234519321CA[8], NC_000001.10:g.234519321CA[9], NC_000001.10:g.234519321CA[10], NC_000001.10:g.234519321CA[11], NC_000001.10:g.234519321CA[13], NC_000001.10:g.234519321CA[14], NC_000001.10:g.234519321CA[15], NC_000001.10:g.234519321CA[16], NC_000001.10:g.234519321CA[17], NC_000001.10:g.234519321CA[18], NC_000001.10:g.234519321CA[19], NC_000001.10:g.234519321CA[20], NC_000001.10:g.234519321CA[21], NC_000001.10:g.234519321CA[22], NG_034250.1:g.15139CA[5], NG_034250.1:g.15139CA[6], NG_034250.1:g.15139CA[7], NG_034250.1:g.15139CA[8], NG_034250.1:g.15139CA[9], NG_034250.1:g.15139CA[10], NG_034250.1:g.15139CA[11], NG_034250.1:g.15139CA[13], NG_034250.1:g.15139CA[14], NG_034250.1:g.15139CA[15], NG_034250.1:g.15139CA[16], NG_034250.1:g.15139CA[17], NG_034250.1:g.15139CA[18], NG_034250.1:g.15139CA[19], NG_034250.1:g.15139CA[20], NG_034250.1:g.15139CA[21], NG_034250.1:g.15139CA[22]

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