SNP Links for Nucleotide (Select 1172222461) - SNP

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Select item 14915360191.

rs1491536019 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 2:238351867 (GRCh38)
2:239260509 (GRCh37)
Canonical SPDI:: NC_000002.12:238351867:C:CAC
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CA=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.238351868_238351869insAC, NC_000002.11:g.239260509_239260510insAC, NG_053055.1:g.36380_36381insAC

Select item 14915337262.

rs1491533726 [Homo sapiens]

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

Select item 14915206683.

rs1491520668 has merged into rs1553612058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 2:238340842 (GRCh38)
2:239249483 (GRCh37)
Canonical SPDI:: NC_000002.12:238340833:TATATATATATATA:TATATATA,NC_000002.12:238340833:TATATATATATATA:TATATATATA,NC_000002.12:238340833:TATATATATATATA:TATATATATATA,NC_000002.12:238340833:TATATATATATATA:TATATATATATATATA,NC_000002.12:238340833:TATATATATATATA:TATATATATATATATATA
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
TATA=0.000011/3 (TOPMED)
TA=0.00046/7 (TOMMO)
HGVS:: NC_000002.12:g.238340834TA[4], NC_000002.12:g.238340834TA[5], NC_000002.12:g.238340834TA[6], NC_000002.12:g.238340834TA[8], NC_000002.12:g.238340834TA[9], NC_000002.11:g.239249475TA[4], NC_000002.11:g.239249475TA[5], NC_000002.11:g.239249475TA[6], NC_000002.11:g.239249475TA[8], NC_000002.11:g.239249475TA[9], NG_053055.1:g.25346TA[4], NG_053055.1:g.25346TA[5], NG_053055.1:g.25346TA[6], NG_053055.1:g.25346TA[8], NG_053055.1:g.25346TA[9]

Select item 14914676434.

rs1491467643 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:238342691 (GRCh38)
2:239251333 (GRCh37)
Canonical SPDI:: NC_000002.12:238342691::A
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.238342691_238342692insA, NC_000002.11:g.239251332_239251333insA, NG_053055.1:g.27203_27204insA

Select item 14914524215.

rs1491452421 has merged into rs11295600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:238358127 (GRCh38)
2:239266768 (GRCh37)
Canonical SPDI:: NC_000002.12:238358113:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:238358113:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:238358113:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:238358113:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:238358113:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:238358113:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000002.12:g.238358127_238358128del, NC_000002.12:g.238358128del, NC_000002.12:g.238358128dup, NC_000002.12:g.238358127_238358128dup, NC_000002.12:g.238358124_238358128dup, NC_000002.12:g.238358123_238358128dup, NC_000002.11:g.239266768_239266769del, NC_000002.11:g.239266769del, NC_000002.11:g.239266769dup, NC_000002.11:g.239266768_239266769dup, NC_000002.11:g.239266765_239266769dup, NC_000002.11:g.239266764_239266769dup, NG_053055.1:g.42639_42640del, NG_053055.1:g.42640del, NG_053055.1:g.42640dup, NG_053055.1:g.42639_42640dup, NG_053055.1:g.42636_42640dup, NG_053055.1:g.42635_42640dup

Select item 14914409306.

rs1491440930 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:238329187 (GRCh38)
2:239237829 (GRCh37)
Canonical SPDI:: NC_000002.12:238329187:A:AA
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.238329188dup, NC_000002.11:g.239237829dup, NG_053055.1:g.13700dup, NM_015650.4:c.761dup, NM_015650.3:c.761dup, NM_001139490.1:c.761dup, XM_011510944.3:c.761dup, XM_011510944.2:c.761dup, XM_011510944.1:c.761dup, XM_011510945.3:c.761dup, XM_011510945.2:c.761dup, XM_011510945.1:c.761dup, XM_011510946.3:c.761dup, XM_011510946.2:c.761dup, XM_011510946.1:c.761dup, XM_011510948.3:c.761dup, XM_011510948.2:c.761dup, XM_011510948.1:c.761dup, XM_006712414.3:c.761dup, XM_006712414.2:c.761dup, XM_006712414.1:c.761dup, XR_922902.3:n.906dup, XR_922902.2:n.935dup, XR_922902.1:n.872dup, XM_017003789.2:c.761dup, XM_017003789.1:c.761dup, XM_047443898.1:c.761dup, NP_056465.2:p.Lys257fs, NP_001132962.1:p.Lys257fs, XP_011509246.1:p.Lys257fs, XP_011509247.1:p.Lys257fs, XP_011509248.1:p.Lys257fs, XP_011509250.1:p.Lys257fs, XP_006712477.1:p.Lys257fs, XP_016859278.1:p.Lys257fs, XP_047299854.1:p.Lys257fs

Select item 14914267567.

rs1491426756 has merged into rs58730491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 2:238384392 (GRCh38)
2:239293033 (GRCh37)
Canonical SPDI:: NC_000002.12:238384380:TATATATATATATAT:TATATATATAT,NC_000002.12:238384380:TATATATATATATAT:TATATATATATAT,NC_000002.12:238384380:TATATATATATATAT:TATATATATATATATAT,NC_000002.12:238384380:TATATATATATATAT:TATATATATATATATATAT,NC_000002.12:238384380:TATATATATATATAT:TATATATATATATATATATAT,NC_000002.12:238384380:TATATATATATATAT:TATATATATATATATATATATAT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.238384382AT[5], NC_000002.12:g.238384382AT[6], NC_000002.12:g.238384382AT[8], NC_000002.12:g.238384382AT[9], NC_000002.12:g.238384382AT[10], NC_000002.12:g.238384382AT[11], NC_000002.11:g.239293023AT[5], NC_000002.11:g.239293023AT[6], NC_000002.11:g.239293023AT[8], NC_000002.11:g.239293023AT[9], NC_000002.11:g.239293023AT[10], NC_000002.11:g.239293023AT[11], NG_053055.1:g.68894AT[5], NG_053055.1:g.68894AT[6], NG_053055.1:g.68894AT[8], NG_053055.1:g.68894AT[9], NG_053055.1:g.68894AT[10], NG_053055.1:g.68894AT[11]

Select item 14913378508.

rs1491337850 has merged into rs34967554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:238318954 (GRCh38)
2:239227595 (GRCh37)
Canonical SPDI:: NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238318942:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.238318954_238318957del, NC_000002.12:g.238318955_238318957del, NC_000002.12:g.238318956_238318957del, NC_000002.12:g.238318957del, NC_000002.12:g.238318957dup, NC_000002.12:g.238318956_238318957dup, NC_000002.12:g.238318955_238318957dup, NC_000002.12:g.238318954_238318957dup, NC_000002.12:g.238318953_238318957dup, NC_000002.12:g.238318952_238318957dup, NC_000002.12:g.238318950_238318957dup, NC_000002.11:g.239227595_239227598del, NC_000002.11:g.239227596_239227598del, NC_000002.11:g.239227597_239227598del, NC_000002.11:g.239227598del, NC_000002.11:g.239227598dup, NC_000002.11:g.239227597_239227598dup, NC_000002.11:g.239227596_239227598dup, NC_000002.11:g.239227595_239227598dup, NC_000002.11:g.239227594_239227598dup, NC_000002.11:g.239227593_239227598dup, NC_000002.11:g.239227591_239227598dup, NG_053055.1:g.3466_3469del, NG_053055.1:g.3467_3469del, NG_053055.1:g.3468_3469del, NG_053055.1:g.3469del, NG_053055.1:g.3469dup, NG_053055.1:g.3468_3469dup, NG_053055.1:g.3467_3469dup, NG_053055.1:g.3466_3469dup, NG_053055.1:g.3465_3469dup, NG_053055.1:g.3464_3469dup, NG_053055.1:g.3462_3469dup

Select item 14912943729.

rs1491294372 has merged into rs948005996 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:238342698 (GRCh38)
2:239251339 (GRCh37)
Canonical SPDI:: NC_000002.12:238342690:TTTTTTTTT:TTTTTTT,NC_000002.12:238342690:TTTTTTTTT:TTTTTTTT,NC_000002.12:238342690:TTTTTTTTT:TTTTTTTTTT,NC_000002.12:238342690:TTTTTTTTT:TTTTTTTTTTT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.238342698_238342699del, NC_000002.12:g.238342699del, NC_000002.12:g.238342699dup, NC_000002.12:g.238342698_238342699dup, NC_000002.11:g.239251339_239251340del, NC_000002.11:g.239251340del, NC_000002.11:g.239251340dup, NC_000002.11:g.239251339_239251340dup, NG_053055.1:g.27210_27211del, NG_053055.1:g.27211del, NG_053055.1:g.27211dup, NG_053055.1:g.27210_27211dup

Select item 149125020410.

rs1491250204 [Homo sapiens]

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

Select item 149123445011.

rs1491234450 [Homo sapiens]

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

Select item 149117979312.

rs1491179793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:238351142 (GRCh38)
2:239259784 (GRCh37)
Canonical SPDI:: NC_000002.12:238351142:GGGG:GGGGG
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238351146dup, NC_000002.11:g.239259787dup, NG_053055.1:g.35658dup

Select item 149117929413.

rs1491179294 has merged into rs71402784 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:238377238 (GRCh38)
2:239285879 (GRCh37)
Canonical SPDI:: NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238377230:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.238377238_238377253del, NC_000002.12:g.238377240_238377253del, NC_000002.12:g.238377241_238377253del, NC_000002.12:g.238377242_238377253del, NC_000002.12:g.238377243_238377253del, NC_000002.12:g.238377244_238377253del, NC_000002.12:g.238377245_238377253del, NC_000002.12:g.238377246_238377253del, NC_000002.12:g.238377247_238377253del, NC_000002.12:g.238377248_238377253del, NC_000002.12:g.238377249_238377253del, NC_000002.12:g.238377250_238377253del, NC_000002.12:g.238377251_238377253del, NC_000002.12:g.238377252_238377253del, NC_000002.12:g.238377253del, NC_000002.12:g.238377253dup, NC_000002.12:g.238377252_238377253dup, NC_000002.12:g.238377251_238377253dup, NC_000002.12:g.238377250_238377253dup, NC_000002.12:g.238377249_238377253dup, NC_000002.12:g.238377248_238377253dup, NC_000002.12:g.238377247_238377253dup, NC_000002.12:g.238377246_238377253dup, NC_000002.12:g.238377245_238377253dup, NC_000002.12:g.238377244_238377253dup, NC_000002.12:g.238377243_238377253dup, NC_000002.12:g.238377242_238377253dup, NC_000002.12:g.238377241_238377253dup, NC_000002.12:g.238377240_238377253dup, NC_000002.12:g.238377237_238377253dup, NC_000002.12:g.238377236_238377253dup, NC_000002.12:g.238377253_238377254insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.238377253_238377254insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.238377253_238377254insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.239285879_239285894del, NC_000002.11:g.239285881_239285894del, NC_000002.11:g.239285882_239285894del, NC_000002.11:g.239285883_239285894del, NC_000002.11:g.239285884_239285894del, NC_000002.11:g.239285885_239285894del, NC_000002.11:g.239285886_239285894del, NC_000002.11:g.239285887_239285894del, NC_000002.11:g.239285888_239285894del, NC_000002.11:g.239285889_239285894del, NC_000002.11:g.239285890_239285894del, NC_000002.11:g.239285891_239285894del, NC_000002.11:g.239285892_239285894del, NC_000002.11:g.239285893_239285894del, NC_000002.11:g.239285894del, NC_000002.11:g.239285894dup, NC_000002.11:g.239285893_239285894dup, NC_000002.11:g.239285892_239285894dup, NC_000002.11:g.239285891_239285894dup, NC_000002.11:g.239285890_239285894dup, NC_000002.11:g.239285889_239285894dup, NC_000002.11:g.239285888_239285894dup, NC_000002.11:g.239285887_239285894dup, NC_000002.11:g.239285886_239285894dup, NC_000002.11:g.239285885_239285894dup, NC_000002.11:g.239285884_239285894dup, NC_000002.11:g.239285883_239285894dup, NC_000002.11:g.239285882_239285894dup, NC_000002.11:g.239285881_239285894dup, NC_000002.11:g.239285878_239285894dup, NC_000002.11:g.239285877_239285894dup, NC_000002.11:g.239285894_239285895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.239285894_239285895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.239285894_239285895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053055.1:g.61750_61765del, NG_053055.1:g.61752_61765del, NG_053055.1:g.61753_61765del, NG_053055.1:g.61754_61765del, NG_053055.1:g.61755_61765del, NG_053055.1:g.61756_61765del, NG_053055.1:g.61757_61765del, NG_053055.1:g.61758_61765del, NG_053055.1:g.61759_61765del, NG_053055.1:g.61760_61765del, NG_053055.1:g.61761_61765del, NG_053055.1:g.61762_61765del, NG_053055.1:g.61763_61765del, NG_053055.1:g.61764_61765del, NG_053055.1:g.61765del, NG_053055.1:g.61765dup, NG_053055.1:g.61764_61765dup, NG_053055.1:g.61763_61765dup, NG_053055.1:g.61762_61765dup, NG_053055.1:g.61761_61765dup, NG_053055.1:g.61760_61765dup, NG_053055.1:g.61759_61765dup, NG_053055.1:g.61758_61765dup, NG_053055.1:g.61757_61765dup, NG_053055.1:g.61756_61765dup, NG_053055.1:g.61755_61765dup, NG_053055.1:g.61754_61765dup, NG_053055.1:g.61753_61765dup, NG_053055.1:g.61752_61765dup, NG_053055.1:g.61749_61765dup, NG_053055.1:g.61748_61765dup, NG_053055.1:g.61765_61766insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053055.1:g.61765_61766insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053055.1:g.61765_61766insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149117912914.

rs1491179129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAATAATAATAGTA,ATAATAATAGTA,ATAATAGTA,ATAGTA [Show Flanks]
Chromosome:: 2:238389777 (GRCh38)
2:239298419 (GRCh37)
Canonical SPDI:: NC_000002.12:238389777:TA:TAATAATAATAATAGTA,NC_000002.12:238389777:TA:TAATAATAATAGTA,NC_000002.12:238389777:TA:TAATAATAGTA,NC_000002.12:238389777:TA:TAATAGTA
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAATAATAGTA=0./0 (ALFA)
TAATAATAATAG=0.00004/1 (TOMMO)
TAATAG=0.00031/2 (1000Genomes)
HGVS:: NC_000002.12:g.238389778_238389779TAA[4]TAGTA[1], NC_000002.12:g.238389778_238389779TAA[3]TAGTA[1], NC_000002.12:g.238389778_238389779TAA[2]TAGTA[1], NC_000002.12:g.238389779_238389780insATAGTA, NC_000002.11:g.239298419_239298420TAA[4]TAGTA[1], NC_000002.11:g.239298419_239298420TAA[3]TAGTA[1], NC_000002.11:g.239298419_239298420TAA[2]TAGTA[1], NC_000002.11:g.239298420_239298421insATAGTA, NG_053055.1:g.74290_74291TAA[4]TAGTA[1], NG_053055.1:g.74290_74291TAA[3]TAGTA[1], NG_053055.1:g.74290_74291TAA[2]TAGTA[1], NG_053055.1:g.74291_74292insATAGTA

Select item 149116109415.

rs1491161094 has merged into rs1384108548 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 2:238384380 (GRCh38)
2:239293021 (GRCh37)
Canonical SPDI:: NC_000002.12:238384378:TGT:T,NC_000002.12:238384378:TGT:TGTGT,NC_000002.12:238384378:TGT:TGTGTGT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.00055/1 (Korea1K)
-=0.00078/13 (TOMMO)
-=0.16235/602 (TWINSUK)
-=0.18474/712 (ALSPAC)
HGVS:: NC_000002.12:g.238384380_238384381del, NC_000002.12:g.238384380_238384381dup, NC_000002.12:g.238384380GT[3], NC_000002.11:g.239293021_239293022del, NC_000002.11:g.239293021_239293022dup, NC_000002.11:g.239293021GT[3], NG_053055.1:g.68892_68893del, NG_053055.1:g.68892_68893dup, NG_053055.1:g.68892GT[3]

Select item 149114310416.

rs1491143104 [Homo sapiens]

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

Select item 149113905917.

rs1491139059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 2:238370472 (GRCh38)
2:239279113 (GRCh37)
Canonical SPDI:: NC_000002.12:238370463:TGTGTGTGTG:TGTGTGTG,NC_000002.12:238370463:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000002.12:g.238370464TG[4], NC_000002.12:g.238370464TG[6], NC_000002.11:g.239279105TG[4], NC_000002.11:g.239279105TG[6], NG_053055.1:g.54976TG[4], NG_053055.1:g.54976TG[6]

Select item 149109626418.

rs1491096264 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:238353243 (GRCh38)
2:239261884 (GRCh37)
Canonical SPDI:: NC_000002.12:238353242:AT:
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.238353243_238353244del, NC_000002.11:g.239261884_239261885del, NG_053055.1:g.37755_37756del

Select item 149106845219.

rs1491068452 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:238343666 (GRCh38)
2:239252307 (GRCh37)
Canonical SPDI:: NC_000002.12:238343665:TC:
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004637/55 (ALFA)
-=0.003977/542 (GnomAD)
HGVS:: NC_000002.12:g.238343666_238343667del, NC_000002.11:g.239252307_239252308del, NG_053055.1:g.28178_28179del

Select item 149101036220.

rs1491010362 has merged into rs71414327 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:238340825 (GRCh38)
2:239249466 (GRCh37)
Canonical SPDI:: NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:238340812:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: TRAF3IP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.238340813GT[6], NC_000002.12:g.238340813GT[7], NC_000002.12:g.238340813GT[8], NC_000002.12:g.238340813GT[9], NC_000002.12:g.238340813GT[10], NC_000002.12:g.238340813GT[12], NC_000002.12:g.238340813GT[13], NC_000002.12:g.238340813GT[14], NC_000002.12:g.238340813GT[15], NC_000002.12:g.238340813GT[16], NC_000002.11:g.239249454GT[6], NC_000002.11:g.239249454GT[7], NC_000002.11:g.239249454GT[8], NC_000002.11:g.239249454GT[9], NC_000002.11:g.239249454GT[10], NC_000002.11:g.239249454GT[12], NC_000002.11:g.239249454GT[13], NC_000002.11:g.239249454GT[14], NC_000002.11:g.239249454GT[15], NC_000002.11:g.239249454GT[16], NG_053055.1:g.25325GT[6], NG_053055.1:g.25325GT[7], NG_053055.1:g.25325GT[8], NG_053055.1:g.25325GT[9], NG_053055.1:g.25325GT[10], NG_053055.1:g.25325GT[12], NG_053055.1:g.25325GT[13], NG_053055.1:g.25325GT[14], NG_053055.1:g.25325GT[15], NG_053055.1:g.25325GT[16]

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