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Select item 14915449221.

rs1491544922 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:54929737 (GRCh38)
17:53007098 (GRCh37)
Canonical SPDI:: NC_000017.11:54929736:AT:
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000035/4 (GnomAD)
HGVS:: NC_000017.11:g.54929737_54929738del, NC_000017.10:g.53007098_53007099del

Select item 14914762912.

rs1491476291 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGT [Show Flanks]
Chromosome:: 17:54943442 (GRCh38)
17:53020804 (GRCh37)
Canonical SPDI:: NC_000017.11:54943442:TGT:TGTCTGT
Gene:: TOM1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTCTGT=0./0 (ALFA)
TGTC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.54943445_54943446insCTGT, NC_000017.10:g.53020806_53020807insCTGT

Select item 14914758923.

rs1491475892 has merged into rs34562804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:54944459 (GRCh38)
17:53021820 (GRCh37)
Canonical SPDI:: NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TOM1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1603/803 (1000Genomes)
HGVS:: NC_000017.11:g.54944459_54944464del, NC_000017.11:g.54944462_54944464del, NC_000017.11:g.54944463_54944464del, NC_000017.11:g.54944464del, NC_000017.11:g.54944464dup, NC_000017.11:g.54944463_54944464dup, NC_000017.11:g.54944462_54944464dup, NC_000017.11:g.54944461_54944464dup, NC_000017.10:g.53021820_53021825del, NC_000017.10:g.53021823_53021825del, NC_000017.10:g.53021824_53021825del, NC_000017.10:g.53021825del, NC_000017.10:g.53021825dup, NC_000017.10:g.53021824_53021825dup, NC_000017.10:g.53021823_53021825dup, NC_000017.10:g.53021822_53021825dup

Select item 14914514774.

rs1491451477 has merged into rs34562804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:54944459 (GRCh38)
17:53021820 (GRCh37)
Canonical SPDI:: NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:54944449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TOM1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1603/803 (1000Genomes)
HGVS:: NC_000017.11:g.54944459_54944464del, NC_000017.11:g.54944462_54944464del, NC_000017.11:g.54944463_54944464del, NC_000017.11:g.54944464del, NC_000017.11:g.54944464dup, NC_000017.11:g.54944463_54944464dup, NC_000017.11:g.54944462_54944464dup, NC_000017.11:g.54944461_54944464dup, NC_000017.10:g.53021820_53021825del, NC_000017.10:g.53021823_53021825del, NC_000017.10:g.53021824_53021825del, NC_000017.10:g.53021825del, NC_000017.10:g.53021825dup, NC_000017.10:g.53021824_53021825dup, NC_000017.10:g.53021823_53021825dup, NC_000017.10:g.53021822_53021825dup

Select item 14914478365.

rs1491447836 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:54929742 (GRCh38)
17:53007104 (GRCh37)
Canonical SPDI:: NC_000017.11:54929742::G
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.54929742_54929743insG, NC_000017.10:g.53007103_53007104insG

Select item 14914150406.

rs1491415040 has merged into rs61518775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:54929750 (GRCh38)
17:53007111 (GRCh37)
Canonical SPDI:: NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54929741:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3099/1552 (1000Genomes)
HGVS:: NC_000017.11:g.54929750_54929756del, NC_000017.11:g.54929754_54929756del, NC_000017.11:g.54929755_54929756del, NC_000017.11:g.54929756del, NC_000017.11:g.54929756dup, NC_000017.11:g.54929755_54929756dup, NC_000017.11:g.54929754_54929756dup, NC_000017.11:g.54929753_54929756dup, NC_000017.11:g.54929752_54929756dup, NC_000017.11:g.54929751_54929756dup, NC_000017.11:g.54929750_54929756dup, NC_000017.11:g.54929749_54929756dup, NC_000017.11:g.54929748_54929756dup, NC_000017.11:g.54929747_54929756dup, NC_000017.11:g.54929745_54929756dup, NC_000017.11:g.54929756_54929757insTTTTTTTTTTTTTTTT, NC_000017.10:g.53007111_53007117del, NC_000017.10:g.53007115_53007117del, NC_000017.10:g.53007116_53007117del, NC_000017.10:g.53007117del, NC_000017.10:g.53007117dup, NC_000017.10:g.53007116_53007117dup, NC_000017.10:g.53007115_53007117dup, NC_000017.10:g.53007114_53007117dup, NC_000017.10:g.53007113_53007117dup, NC_000017.10:g.53007112_53007117dup, NC_000017.10:g.53007111_53007117dup, NC_000017.10:g.53007110_53007117dup, NC_000017.10:g.53007109_53007117dup, NC_000017.10:g.53007108_53007117dup, NC_000017.10:g.53007106_53007117dup, NC_000017.10:g.53007117_53007118insTTTTTTTTTTTTTTTT

Select item 14913646237.

rs1491364623 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:54937096 (GRCh38)
17:53014457 (GRCh37)
Canonical SPDI:: NC_000017.11:54937095:GC:
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.023959/107 (ALFA)
-=0.000806/96 (ExAC)
HGVS:: NC_000017.11:g.54937096_54937097del, NC_000017.10:g.53014457_53014458del

Select item 14910930728.

rs1491093072 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->T
Chromosome:: no mapping
Canonical SPDI:

Select item 14910803279.

rs1491080327 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:54944463 (GRCh38)
17:53021825 (GRCh37)
Canonical SPDI:: NC_000017.11:54944463:A:AGA
Gene:: TOM1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0./0 (GnomAD)
AG=0.000008/2 (TOPMED)
AG=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.54944464_54944465insGA, NC_000017.10:g.53021825_53021826insGA

Select item 149107443610.

rs1491074436 has merged into rs71159275 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:54952559 (GRCh38)
17:53029920 (GRCh37)
Canonical SPDI:: NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:54952546:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COX11 (Varview), TOM1L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.54952559_54952568del, NC_000017.11:g.54952562_54952568del, NC_000017.11:g.54952563_54952568del, NC_000017.11:g.54952564_54952568del, NC_000017.11:g.54952565_54952568del, NC_000017.11:g.54952566_54952568del, NC_000017.11:g.54952567_54952568del, NC_000017.11:g.54952568del, NC_000017.11:g.54952568dup, NC_000017.11:g.54952567_54952568dup, NC_000017.11:g.54952566_54952568dup, NC_000017.11:g.54952565_54952568dup, NC_000017.11:g.54952564_54952568dup, NC_000017.11:g.54952563_54952568dup, NC_000017.11:g.54952559_54952568dup, NC_000017.11:g.54952568_54952569insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.53029920_53029929del, NC_000017.10:g.53029923_53029929del, NC_000017.10:g.53029924_53029929del, NC_000017.10:g.53029925_53029929del, NC_000017.10:g.53029926_53029929del, NC_000017.10:g.53029927_53029929del, NC_000017.10:g.53029928_53029929del, NC_000017.10:g.53029929del, NC_000017.10:g.53029929dup, NC_000017.10:g.53029928_53029929dup, NC_000017.10:g.53029927_53029929dup, NC_000017.10:g.53029926_53029929dup, NC_000017.10:g.53029925_53029929dup, NC_000017.10:g.53029924_53029929dup, NC_000017.10:g.53029920_53029929dup, NC_000017.10:g.53029929_53029930insAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_011524342.4:c.*8525_*8534del, XM_011524342.4:c.*8528_*8534del, XM_011524342.4:c.*8529_*8534del, XM_011524342.4:c.*8530_*8534del, XM_011524342.4:c.*8531_*8534del, XM_011524342.4:c.*8532_*8534del, XM_011524342.4:c.*8533_*8534del, XM_011524342.4:c.*8534del, XM_011524342.4:c.*8534dup, XM_011524342.4:c.*8533_*8534dup, XM_011524342.4:c.*8532_*8534dup, XM_011524342.4:c.*8531_*8534dup, XM_011524342.4:c.*8530_*8534dup, XM_011524342.4:c.*8529_*8534dup, XM_011524342.4:c.*8525_*8534dup, XM_011524342.4:c.*8534_*8535insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017024192.3:c.*8529_*8538del, XM_017024192.3:c.*8532_*8538del, XM_017024192.3:c.*8533_*8538del, XM_017024192.3:c.*8534_*8538del, XM_017024192.3:c.*8535_*8538del, XM_017024192.3:c.*8536_*8538del, XM_017024192.3:c.*8537_*8538del, XM_017024192.3:c.*8538del, XM_017024192.3:c.*8538dup, XM_017024192.3:c.*8537_*8538dup, XM_017024192.3:c.*8536_*8538dup, XM_017024192.3:c.*8535_*8538dup, XM_017024192.3:c.*8534_*8538dup, XM_017024192.3:c.*8533_*8538dup, XM_017024192.3:c.*8529_*8538dup, XM_017024192.3:c.*8538_*8539insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024450584.2:c.*7061_*7070del, XM_024450584.2:c.*7064_*7070del, XM_024450584.2:c.*7065_*7070del, XM_024450584.2:c.*7066_*7070del, XM_024450584.2:c.*7067_*7070del, XM_024450584.2:c.*7068_*7070del, XM_024450584.2:c.*7069_*7070del, XM_024450584.2:c.*7070del, XM_024450584.2:c.*7070dup, XM_024450584.2:c.*7069_*7070dup, XM_024450584.2:c.*7068_*7070dup, XM_024450584.2:c.*7067_*7070dup, XM_024450584.2:c.*7066_*7070dup, XM_024450584.2:c.*7065_*7070dup, XM_024450584.2:c.*7061_*7070dup, XM_024450584.2:c.*7070_*7071insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024450584.1:c.*7061_*7070del, XM_024450584.1:c.*7064_*7070del, XM_024450584.1:c.*7065_*7070del, XM_024450584.1:c.*7066_*7070del, XM_024450584.1:c.*7067_*7070del, XM_024450584.1:c.*7068_*7070del, XM_024450584.1:c.*7069_*7070del, XM_024450584.1:c.*7070del, XM_024450584.1:c.*7070dup, XM_024450584.1:c.*7069_*7070dup, XM_024450584.1:c.*7068_*7070dup, XM_024450584.1:c.*7067_*7070dup, XM_024450584.1:c.*7066_*7070dup, XM_024450584.1:c.*7065_*7070dup, XM_024450584.1:c.*7061_*7070dup, XM_024450584.1:c.*7070_*7071insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024450583.2:c.*7057_*7066del, XM_024450583.2:c.*7060_*7066del, XM_024450583.2:c.*7061_*7066del, XM_024450583.2:c.*7062_*7066del, XM_024450583.2:c.*7063_*7066del, XM_024450583.2:c.*7064_*7066del, XM_024450583.2:c.*7065_*7066del, XM_024450583.2:c.*7066del, XM_024450583.2:c.*7066dup, XM_024450583.2:c.*7065_*7066dup, XM_024450583.2:c.*7064_*7066dup, XM_024450583.2:c.*7063_*7066dup, XM_024450583.2:c.*7062_*7066dup, XM_024450583.2:c.*7061_*7066dup, XM_024450583.2:c.*7057_*7066dup, XM_024450583.2:c.*7066_*7067insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024450583.1:c.*7057_*7066del, XM_024450583.1:c.*7060_*7066del, XM_024450583.1:c.*7061_*7066del, XM_024450583.1:c.*7062_*7066del, XM_024450583.1:c.*7063_*7066del, XM_024450583.1:c.*7064_*7066del, XM_024450583.1:c.*7065_*7066del, XM_024450583.1:c.*7066del, XM_024450583.1:c.*7066dup, XM_024450583.1:c.*7065_*7066dup, XM_024450583.1:c.*7064_*7066dup, XM_024450583.1:c.*7063_*7066dup, XM_024450583.1:c.*7062_*7066dup, XM_024450583.1:c.*7061_*7066dup, XM_024450583.1:c.*7057_*7066dup, XM_024450583.1:c.*7066_*7067insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106782811.

rs1491067828 has merged into rs11393749 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:54926652 (GRCh38)
17:53004013 (GRCh37)
Canonical SPDI:: NC_000017.11:54926641:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:54926641:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:54926641:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:54926641:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:54926641:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.3205/1605 (1000Genomes)
HGVS:: NC_000017.11:g.54926652_54926655del, NC_000017.11:g.54926654_54926655del, NC_000017.11:g.54926655del, NC_000017.11:g.54926655dup, NC_000017.11:g.54926654_54926655dup, NC_000017.10:g.53004013_53004016del, NC_000017.10:g.53004015_53004016del, NC_000017.10:g.53004016del, NC_000017.10:g.53004016dup, NC_000017.10:g.53004015_53004016dup

Select item 149106491112.

rs1491064911 has merged into rs71361745 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:54959630 (GRCh38)
17:53036991 (GRCh37)
Canonical SPDI:: NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:54959616:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COX11 (Varview), TOM1L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2837/1421 (1000Genomes)
HGVS:: NC_000017.11:g.54959630_54959634del, NC_000017.11:g.54959631_54959634del, NC_000017.11:g.54959632_54959634del, NC_000017.11:g.54959633_54959634del, NC_000017.11:g.54959634del, NC_000017.11:g.54959634dup, NC_000017.11:g.54959633_54959634dup, NC_000017.11:g.54959632_54959634dup, NC_000017.11:g.54959631_54959634dup, NC_000017.11:g.54959630_54959634dup, NC_000017.11:g.54959628_54959634dup, NC_000017.11:g.54959626_54959634dup, NC_000017.10:g.53036991_53036995del, NC_000017.10:g.53036992_53036995del, NC_000017.10:g.53036993_53036995del, NC_000017.10:g.53036994_53036995del, NC_000017.10:g.53036995del, NC_000017.10:g.53036995dup, NC_000017.10:g.53036994_53036995dup, NC_000017.10:g.53036993_53036995dup, NC_000017.10:g.53036992_53036995dup, NC_000017.10:g.53036991_53036995dup, NC_000017.10:g.53036989_53036995dup, NC_000017.10:g.53036987_53036995dup, XM_047435372.1:c.*3112_*3116del, XM_047435372.1:c.*3113_*3116del, XM_047435372.1:c.*3114_*3116del, XM_047435372.1:c.*3115_*3116del, XM_047435372.1:c.*3116del, XM_047435372.1:c.*3116dup, XM_047435372.1:c.*3115_*3116dup, XM_047435372.1:c.*3114_*3116dup, XM_047435372.1:c.*3113_*3116dup, XM_047435372.1:c.*3112_*3116dup, XM_047435372.1:c.*3110_*3116dup, XM_047435372.1:c.*3108_*3116dup

Select item 149103702413.

rs1491037024 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:54931960 (GRCh38)
17:53009321 (GRCh37)
Canonical SPDI:: NC_000017.11:54931958:TGT:T
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000017.11:g.54931960_54931961del, NC_000017.10:g.53009321_53009322del

Select item 149102003914.

rs1491020039 has merged into rs34885580 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 17:54919811 (GRCh38)
17:52997172 (GRCh37)
Canonical SPDI:: NC_000017.11:54919802:TTTTTTTTTT:TTTTTTTT,NC_000017.11:54919802:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:54919802:TTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:54919802:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: TOM1L1 (Varview), LOC124904032 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.169828/2846 (TOMMO)
-=0.206667/124 (NorthernSweden)
-=0.212336/389 (Korea1K)
-=0.244498/1211 (1000Genomes)
-=0.277324/73405 (TOPMED)
-=0.291964/1308 (Estonian)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000017.11:g.54919811_54919812del, NC_000017.11:g.54919812del, NC_000017.11:g.54919812dup, NC_000017.11:g.54919811_54919812dup, NC_000017.10:g.52997172_52997173del, NC_000017.10:g.52997173del, NC_000017.10:g.52997173dup, NC_000017.10:g.52997172_52997173dup

Select item 149098188015.

rs1490981880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:54915520 (GRCh38)
17:52992881 (GRCh37)
Canonical SPDI:: NC_000017.11:54915519:C:T
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.54915520C>T, NC_000017.10:g.52992881C>T

Select item 149097838316.

rs1490978383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:54918296 (GRCh38)
17:52995657 (GRCh37)
Canonical SPDI:: NC_000017.11:54918295:C:T
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.54918296C>T, NC_000017.10:g.52995657C>T

Select item 149088877317.

rs1490888773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:54957474 (GRCh38)
17:53034835 (GRCh37)
Canonical SPDI:: NC_000017.11:54957473:A:C,NC_000017.11:54957473:A:G
Gene:: COX11 (Varview), TOM1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.54957474A>C, NC_000017.11:g.54957474A>G, NC_000017.10:g.53034835A>C, NC_000017.10:g.53034835A>G, XM_011524342.4:c.*3607T>G, XM_011524342.4:c.*3607T>C, XM_011524342.3:c.*3607T>G, XM_011524342.3:c.*3607T>C, XM_011524342.2:c.*3607T>G, XM_011524342.2:c.*3607T>C, XM_017024192.3:c.*3611T>G, XM_017024192.3:c.*3611T>C, XM_017024192.2:c.*3611T>G, XM_017024192.2:c.*3611T>C, XM_017024192.1:c.*3611T>G, XM_017024192.1:c.*3611T>C, XM_024450584.2:c.*2143T>G, XM_024450584.2:c.*2143T>C, XM_024450584.1:c.*2143T>G, XM_024450584.1:c.*2143T>C, XM_024450583.2:c.*2139T>G, XM_024450583.2:c.*2139T>C, XM_024450583.1:c.*2139T>G, XM_024450583.1:c.*2139T>C, XM_047435372.1:c.*5259T>G, XM_047435372.1:c.*5259T>C

Select item 149080507618.

rs1490805076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:54941881 (GRCh38)
17:53019242 (GRCh37)
Canonical SPDI:: NC_000017.11:54941880:A:G
Gene:: TOM1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.54941881A>G, NC_000017.10:g.53019242A>G

Select item 149079731619.

rs1490797316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:54925560 (GRCh38)
17:53002921 (GRCh37)
Canonical SPDI:: NC_000017.11:54925559:G:A
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.54925560G>A, NC_000017.10:g.53002921G>A

Select item 149071933920.

rs1490719339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:54934865 (GRCh38)
17:53012226 (GRCh37)
Canonical SPDI:: NC_000017.11:54934864:A:C,NC_000017.11:54934864:A:G
Gene:: TOM1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.54934865A>C, NC_000017.11:g.54934865A>G, NC_000017.10:g.53012226A>C, NC_000017.10:g.53012226A>G

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