SNP Links for Gene (Select 107986171) - SNP

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Select item 14913749081.

rs1491374908 has merged into rs71635342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTAAAAAATATTTTTTTTTTTTTTTTTAAATATATTTTTTTTATAAAATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:191154877 (GRCh38)
3:190872666 (GRCh37)
Canonical SPDI:: NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAATATTTTTTTTTTTTTTTTTAAATATATTTTTTTTATAAAATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191154867:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC107986171 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.035144/176 (1000Genomes)
HGVS:: NC_000003.12:g.191154877_191154891del, NC_000003.12:g.191154878_191154891del, NC_000003.12:g.191154879_191154891del, NC_000003.12:g.191154880_191154891del, NC_000003.12:g.191154881_191154891del, NC_000003.12:g.191154882_191154891del, NC_000003.12:g.191154884_191154891del, NC_000003.12:g.191154885_191154891del, NC_000003.12:g.191154886_191154891del, NC_000003.12:g.191154888_191154891del, NC_000003.12:g.191154889_191154891del, NC_000003.12:g.191154890_191154891del, NC_000003.12:g.191154891del, NC_000003.12:g.191154891dup, NC_000003.12:g.191154890_191154891dup, NC_000003.12:g.191154889_191154891dup, NC_000003.12:g.191154888_191154891dup, NC_000003.12:g.191154887_191154891dup, NC_000003.12:g.191154886_191154891dup, NC_000003.12:g.191154885_191154891dup, NC_000003.12:g.191154884_191154891dup, NC_000003.12:g.191154868_191154891T[32]A[6]TATTTTTTTTTTTTTTTTTAAATATATTTTTTTTATAAAATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.191154883_191154891dup, NC_000003.12:g.191154882_191154891dup, NC_000003.12:g.191154881_191154891dup, NC_000003.12:g.191154880_191154891dup, NC_000003.12:g.191154868_191154891dup, NC_000003.11:g.190872666_190872680del, NC_000003.11:g.190872667_190872680del, NC_000003.11:g.190872668_190872680del, NC_000003.11:g.190872669_190872680del, NC_000003.11:g.190872670_190872680del, NC_000003.11:g.190872671_190872680del, NC_000003.11:g.190872673_190872680del, NC_000003.11:g.190872674_190872680del, NC_000003.11:g.190872675_190872680del, NC_000003.11:g.190872677_190872680del, NC_000003.11:g.190872678_190872680del, NC_000003.11:g.190872679_190872680del, NC_000003.11:g.190872680del, NC_000003.11:g.190872680dup, NC_000003.11:g.190872679_190872680dup, NC_000003.11:g.190872678_190872680dup, NC_000003.11:g.190872677_190872680dup, NC_000003.11:g.190872676_190872680dup, NC_000003.11:g.190872675_190872680dup, NC_000003.11:g.190872674_190872680dup, NC_000003.11:g.190872673_190872680dup, NC_000003.11:g.190872657_190872680T[32]A[6]TATTTTTTTTTTTTTTTTTAAATATATTTTTTTTATAAAATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.190872672_190872680dup, NC_000003.11:g.190872671_190872680dup, NC_000003.11:g.190872670_190872680dup, NC_000003.11:g.190872669_190872680dup, NC_000003.11:g.190872657_190872680dup

Select item 14906939232.

rs1490693923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:191165821 (GRCh38)
3:190883610 (GRCh37)
Canonical SPDI:: NC_000003.12:191165820:C:G
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.191165821C>G, NC_000003.11:g.190883610C>G

Select item 14906318883.

rs1490631888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:191161240 (GRCh38)
3:190879029 (GRCh37)
Canonical SPDI:: NC_000003.12:191161239:G:A
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.191161240G>A, NC_000003.11:g.190879029G>A

Select item 14903745264.

rs1490374526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:191169125 (GRCh38)
3:190886914 (GRCh37)
Canonical SPDI:: NC_000003.12:191169124:C:T
Gene:: LOC107986171 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000003.12:g.191169125C>T, NC_000003.11:g.190886914C>T

Select item 14903514575.

rs1490351457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:191168091 (GRCh38)
3:190885880 (GRCh37)
Canonical SPDI:: NC_000003.12:191168090:G:T
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.191168091G>T, NC_000003.11:g.190885880G>T

Select item 14901510676.

rs1490151067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:191160757 (GRCh38)
3:190878546 (GRCh37)
Canonical SPDI:: NC_000003.12:191160756:T:C
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.191160757T>C, NC_000003.11:g.190878546T>C

Select item 14898839617.

rs1489883961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:191159406 (GRCh38)
3:190877195 (GRCh37)
Canonical SPDI:: NC_000003.12:191159405:G:A
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.191159406G>A, NC_000003.11:g.190877195G>A

Select item 14896213888.

rs1489621388 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACT>- [Show Flanks]
Chromosome:: 3:191166601 (GRCh38)
3:190884390 (GRCh37)
Canonical SPDI:: NC_000003.12:191166598:CTAACT:CT
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.191166601_191166604del, NC_000003.11:g.190884390_190884393del

Select item 14894604979.

rs1489460497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:191155019 (GRCh38)
3:190872808 (GRCh37)
Canonical SPDI:: NC_000003.12:191155018:C:T
Gene:: LOC107986171 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.191155019C>T, NC_000003.11:g.190872808C>T

Select item 148936031910.

rs1489360319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:191154325 (GRCh38)
3:190872114 (GRCh37)
Canonical SPDI:: NC_000003.12:191154324:T:C
Gene:: LOC107986171 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000212/4 (TOMMO)
HGVS:: NC_000003.12:g.191154325T>C, NC_000003.11:g.190872114T>C

Select item 148925366711.

rs1489253667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:191158813 (GRCh38)
3:190876602 (GRCh37)
Canonical SPDI:: NC_000003.12:191158812:T:A,NC_000003.12:191158812:T:G
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.191158813T>A, NC_000003.12:g.191158813T>G, NC_000003.11:g.190876602T>A, NC_000003.11:g.190876602T>G, NG_083230.1:g.1072T>A, NG_083230.1:g.1072T>G

Select item 148918537912.

rs1489185379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:191159143 (GRCh38)
3:190876932 (GRCh37)
Canonical SPDI:: NC_000003.12:191159142:C:T
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.191159143C>T, NC_000003.11:g.190876932C>T

Select item 148889161213.

rs1488891612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:191162198 (GRCh38)
3:190879987 (GRCh37)
Canonical SPDI:: NC_000003.12:191162197:C:T
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.191162198C>T, NC_000003.11:g.190879987C>T

Select item 148865865414.

rs1488658654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:191166063 (GRCh38)
3:190883852 (GRCh37)
Canonical SPDI:: NC_000003.12:191166062:A:G
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.191166063A>G, NC_000003.11:g.190883852A>G

Select item 148833887015.

rs1488338870 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 3:191158268 (GRCh38)
3:190876057 (GRCh37)
Canonical SPDI:: NC_000003.12:191158265:AAGAAA:AA
Gene:: LOC107986171 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.191158268_191158271del, NC_000003.11:g.190876057_190876060del, NG_083230.1:g.527_530del, XR_001741070.2:n.392_395del, XR_001741070.1:n.392_395del

Select item 148752152316.

rs1487521523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:191161992 (GRCh38)
3:190879781 (GRCh37)
Canonical SPDI:: NC_000003.12:191161991:A:T
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.191161992A>T, NC_000003.11:g.190879781A>T

Select item 148749643417.

rs1487496434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:191156044 (GRCh38)
3:190873833 (GRCh37)
Canonical SPDI:: NC_000003.12:191156043:A:G
Gene:: LOC107986171 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.191156044A>G, NC_000003.11:g.190873833A>G

Select item 148722147118.

rs1487221471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:191160123 (GRCh38)
3:190877912 (GRCh37)
Canonical SPDI:: NC_000003.12:191160122:A:G
Gene:: LOC107986171 (Varview)
Functional Consequence:: 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_000003.12:g.191160123A>G, NC_000003.11:g.190877912A>G

Select item 148722030719.

rs1487220307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:191160787 (GRCh38)
3:190878576 (GRCh37)
Canonical SPDI:: NC_000003.12:191160786:G:A
Gene:: LOC107986171 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.191160787G>A, NC_000003.11:g.190878576G>A

Select item 148721063320.

rs1487210633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:191159067 (GRCh38)
3:190876856 (GRCh37)
Canonical SPDI:: NC_000003.12:191159066:T:G
Gene:: LOC107986171 (Varview)
Functional Consequence:: 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_000003.12:g.191159067T>G, NC_000003.11:g.190876856T>G, NG_083230.1:g.1326T>G

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