SNP Links for Gene (Select 10086) - SNP

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Select item 14912327521.

rs1491232752 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:132081151 (GRCh38)
8:133093398 (GRCh37)
Canonical SPDI:: NC_000008.11:132081150:CA:
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.132081151_132081152del, NC_000008.10:g.133093398_133093399del

Select item 14911541372.

rs1491154137 has merged into rs56128608 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 8:132081152 (GRCh38)
8:133093399 (GRCh37)
Canonical SPDI:: NC_000008.11:132081151:AAAAAAA:AAAAAA,NC_000008.11:132081151:AAAAAAA:AAAAAAAA
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.056825/383 (ALFA)
A=0.039062/175 (Estonian)
A=0.046667/28 (NorthernSweden)
A=0.051102/51 (GoNL)
A=0.052673/203 (ALSPAC)
A=0.057443/213 (TWINSUK)
A=0.082088/21728 (TOPMED)
A=0.120394/603 (1000Genomes)
A=0.166502/2791 (TOMMO)
HGVS:: NC_000008.11:g.132081158del, NC_000008.11:g.132081158dup, NC_000008.10:g.133093405del, NC_000008.10:g.133093405dup

Select item 14911430223.

rs1491143022 has merged into rs398047424 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 8:132090769 (GRCh38)
8:133103016 (GRCh37)
Canonical SPDI:: NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132090755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1785/688 (ALSPAC)
T=0.4098/159 (NorthernSweden)
HGVS:: NC_000008.11:g.132090769_132090776del, NC_000008.11:g.132090770_132090776del, NC_000008.11:g.132090771_132090776del, NC_000008.11:g.132090772_132090776del, NC_000008.11:g.132090773_132090776del, NC_000008.11:g.132090774_132090776del, NC_000008.11:g.132090775_132090776del, NC_000008.11:g.132090776del, NC_000008.11:g.132090776dup, NC_000008.11:g.132090775_132090776dup, NC_000008.10:g.133103016_133103023del, NC_000008.10:g.133103017_133103023del, NC_000008.10:g.133103018_133103023del, NC_000008.10:g.133103019_133103023del, NC_000008.10:g.133103020_133103023del, NC_000008.10:g.133103021_133103023del, NC_000008.10:g.133103022_133103023del, NC_000008.10:g.133103023del, NC_000008.10:g.133103023dup, NC_000008.10:g.133103022_133103023dup

Select item 14910709414.

rs1491070941 has merged into rs56123548 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:132101595 (GRCh38)
8:133113842 (GRCh37)
Canonical SPDI:: NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132101582:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3617/1301 (1000Genomes)
HGVS:: NC_000008.11:g.132101595_132101596del, NC_000008.11:g.132101596del, NC_000008.11:g.132101596dup, NC_000008.11:g.132101595_132101596dup, NC_000008.11:g.132101593_132101596dup, NC_000008.11:g.132101590_132101596dup, NC_000008.11:g.132101587_132101596dup, NC_000008.10:g.133113842_133113843del, NC_000008.10:g.133113843del, NC_000008.10:g.133113843dup, NC_000008.10:g.133113842_133113843dup, NC_000008.10:g.133113840_133113843dup, NC_000008.10:g.133113837_133113843dup, NC_000008.10:g.133113834_133113843dup

Select item 14910092065.

rs1491009206 has merged into rs750111284 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 8:132070018 (GRCh38)
8:133082265 (GRCh37)
Canonical SPDI:: NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000008.11:132070011:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000008.11:g.132070018_132070024del, NC_000008.11:g.132070019_132070024del, NC_000008.11:g.132070020_132070024del, NC_000008.11:g.132070021_132070024del, NC_000008.11:g.132070022_132070024del, NC_000008.11:g.132070023_132070024del, NC_000008.11:g.132070024del, NC_000008.11:g.132070024dup, NC_000008.11:g.132070023_132070024dup, NC_000008.11:g.132070022_132070024dup, NC_000008.11:g.132070021_132070024dup, NC_000008.11:g.132070020_132070024dup, NC_000008.11:g.132070019_132070024dup, NC_000008.11:g.132070018_132070024dup, NC_000008.11:g.132070017_132070024dup, NC_000008.11:g.132070016_132070024dup, NC_000008.11:g.132070015_132070024dup, NC_000008.11:g.132070014_132070024dup, NC_000008.11:g.132070013_132070024dup, NC_000008.11:g.132070024_132070025insGGGGGGGGGGGGGG, NC_000008.11:g.132070024_132070025insGGGGGGGGGGGGGGG, NC_000008.11:g.132070024_132070025insGGGGGGGGGGGGGGGG, NC_000008.11:g.132070024_132070025insGGGGGGGGGGGGGGGGG, NC_000008.11:g.132070024_132070025insGGGGGGGGGGGGGGGGGGGGGGG, NC_000008.11:g.132070024_132070025insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000008.10:g.133082265_133082271del, NC_000008.10:g.133082266_133082271del, NC_000008.10:g.133082267_133082271del, NC_000008.10:g.133082268_133082271del, NC_000008.10:g.133082269_133082271del, NC_000008.10:g.133082270_133082271del, NC_000008.10:g.133082271del, NC_000008.10:g.133082271dup, NC_000008.10:g.133082270_133082271dup, NC_000008.10:g.133082269_133082271dup, NC_000008.10:g.133082268_133082271dup, NC_000008.10:g.133082267_133082271dup, NC_000008.10:g.133082266_133082271dup, NC_000008.10:g.133082265_133082271dup, NC_000008.10:g.133082264_133082271dup, NC_000008.10:g.133082263_133082271dup, NC_000008.10:g.133082262_133082271dup, NC_000008.10:g.133082261_133082271dup, NC_000008.10:g.133082260_133082271dup, NC_000008.10:g.133082271_133082272insGGGGGGGGGGGGGG, NC_000008.10:g.133082271_133082272insGGGGGGGGGGGGGGG, NC_000008.10:g.133082271_133082272insGGGGGGGGGGGGGGGG, NC_000008.10:g.133082271_133082272insGGGGGGGGGGGGGGGGG, NC_000008.10:g.133082271_133082272insGGGGGGGGGGGGGGGGGGGGGGG, NC_000008.10:g.133082271_133082272insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 14909938206.

rs1490993820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:132074476 (GRCh38)
8:133086723 (GRCh37)
Canonical SPDI:: NC_000008.11:132074475:C:G,NC_000008.11:132074475:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.132074476C>G, NC_000008.11:g.132074476C>T, NC_000008.10:g.133086723C>G, NC_000008.10:g.133086723C>T

Select item 14909711577.

rs1490971157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:132099665 (GRCh38)
8:133111912 (GRCh37)
Canonical SPDI:: NC_000008.11:132099664:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.132099665C>T, NC_000008.10:g.133111912C>T

Select item 14908539138.

rs1490853913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:132083386 (GRCh38)
8:133095633 (GRCh37)
Canonical SPDI:: NC_000008.11:132083385:A:G,NC_000008.11:132083385:A:T
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.132083386A>G, NC_000008.11:g.132083386A>T, NC_000008.10:g.133095633A>G, NC_000008.10:g.133095633A>T

Select item 14907897009.

rs1490789700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:132070731 (GRCh38)
8:133082978 (GRCh37)
Canonical SPDI:: NC_000008.11:132070730:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.132070731C>T, NC_000008.10:g.133082978C>T

Select item 149076616210.

rs1490766162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:132071458 (GRCh38)
8:133083705 (GRCh37)
Canonical SPDI:: NC_000008.11:132071457:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/3 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.132071458C>T, NC_000008.10:g.133083705C>T, NM_001145095.3:c.1351G>A, NM_001145095.2:c.1351G>A, NM_001145095.1:c.1351G>A, NM_005712.1:c.922G>A, NP_001138567.1:p.Ala451Thr

Select item 149072960111.

rs1490729601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:132067237 (GRCh38)
8:133079484 (GRCh37)
Canonical SPDI:: NC_000008.11:132067236:G:A
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.132067237G>A, NC_000008.10:g.133079484G>A

Select item 149062371012.

rs1490623710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:132071819 (GRCh38)
8:133084066 (GRCh37)
Canonical SPDI:: NC_000008.11:132071818:T:A
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.132071819T>A, NC_000008.10:g.133084066T>A

Select item 149061485013.

rs1490614850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:132100510 (GRCh38)
8:133112757 (GRCh37)
Canonical SPDI:: NC_000008.11:132100509:G:A
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.132100510G>A, NC_000008.10:g.133112757G>A

Select item 149057482714.

rs1490574827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:132073815 (GRCh38)
8:133086062 (GRCh37)
Canonical SPDI:: NC_000008.11:132073814:T:A
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000008.11:g.132073815T>A, NC_000008.10:g.133086062T>A

Select item 149057160415.

rs1490571604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:132085695 (GRCh38)
8:133097942 (GRCh37)
Canonical SPDI:: NC_000008.11:132085694:G:A
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.132085695G>A, NC_000008.10:g.133097942G>A

Select item 149035943216.

rs1490359432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:132106558 (GRCh38)
8:133118805 (GRCh37)
Canonical SPDI:: NC_000008.11:132106557:G:A
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.132106558G>A, NC_000008.10:g.133118805G>A

Select item 149024431017.

rs1490244310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:132086369 (GRCh38)
8:133098616 (GRCh37)
Canonical SPDI:: NC_000008.11:132086368:C:A,NC_000008.11:132086368:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.132086369C>A, NC_000008.11:g.132086369C>T, NC_000008.10:g.133098616C>A, NC_000008.10:g.133098616C>T, NG_075795.1:g.328C>A, NG_075795.1:g.328C>T

Select item 148977846918.

rs1489778469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:132101665 (GRCh38)
8:133113912 (GRCh37)
Canonical SPDI:: NC_000008.11:132101664:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.132101665C>T, NC_000008.10:g.133113912C>T

Select item 148977774019.

rs1489777740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:132061755 (GRCh38)
8:133074002 (GRCh37)
Canonical SPDI:: NC_000008.11:132061754:C:T
Gene:: HHLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.132061755C>T, NC_000008.10:g.133074002C>T, NM_001145095.3:c.*2240G>A, NM_001145095.2:c.*2240G>A, NM_001145095.1:c.*2240G>A

Select item 148971680120.

rs1489716801 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAT>- [Show Flanks]
Chromosome:: 8:132074838 (GRCh38)
8:133087085 (GRCh37)
Canonical SPDI:: NC_000008.11:132074832:TAGATAGAT:TAGAT
Gene:: HHLA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGAT=0./0 (ALFA)
-=0.000397/105 (TOPMED)
-=0.000478/67 (GnomAD)
HGVS:: NC_000008.11:g.132074834AGAT[1], NC_000008.10:g.133087081AGAT[1]

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