SNP Links for Gene (Select 201798) - SNP

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Select item 14915433391.

rs1491543339 has merged into rs34226304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 4:152769051 (GRCh38)
4:153690203 (GRCh37)
Canonical SPDI:: NC_000004.12:152769042:ATATATATATATAT:ATATATAT,NC_000004.12:152769042:ATATATATATATAT:ATATATATAT,NC_000004.12:152769042:ATATATATATATAT:ATATATATATAT,NC_000004.12:152769042:ATATATATATATAT:ATATATATATATATAT,NC_000004.12:152769042:ATATATATATATAT:ATATATATATATATATAT
Gene:: TIGD4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
-=0.13889/5 (GENOME_DK)
-=0.14459/620 (Estonian)
-=0.15405/743 (1000Genomes)
HGVS:: NC_000004.12:g.152769043AT[4], NC_000004.12:g.152769043AT[5], NC_000004.12:g.152769043AT[6], NC_000004.12:g.152769043AT[8], NC_000004.12:g.152769043AT[9], NC_000004.11:g.153690195AT[4], NC_000004.11:g.153690195AT[5], NC_000004.11:g.153690195AT[6], NC_000004.11:g.153690195AT[8], NC_000004.11:g.153690195AT[9]

Select item 14912792832.

rs1491279283 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:152781235 (GRCh38)
4:153702388 (GRCh37)
Canonical SPDI:: NC_000004.12:152781235::C
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.152781235_152781236insC, NC_000004.11:g.153702387_153702388insC

Select item 14912581863.

rs1491258186 has merged into rs535397594 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:152781240 (GRCh38)
4:153702392 (GRCh37)
Canonical SPDI:: NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:152781234:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.499/2499 (1000Genomes)
HGVS:: NC_000004.12:g.152781240_152781253del, NC_000004.12:g.152781244_152781253del, NC_000004.12:g.152781245_152781253del, NC_000004.12:g.152781246_152781253del, NC_000004.12:g.152781247_152781253del, NC_000004.12:g.152781248_152781253del, NC_000004.12:g.152781250_152781253del, NC_000004.12:g.152781251_152781253del, NC_000004.12:g.152781252_152781253del, NC_000004.12:g.152781253del, NC_000004.12:g.152781253dup, NC_000004.12:g.152781252_152781253dup, NC_000004.12:g.152781251_152781253dup, NC_000004.12:g.152781250_152781253dup, NC_000004.12:g.152781249_152781253dup, NC_000004.12:g.152781248_152781253dup, NC_000004.12:g.152781247_152781253dup, NC_000004.12:g.152781246_152781253dup, NC_000004.12:g.152781245_152781253dup, NC_000004.12:g.152781244_152781253dup, NC_000004.12:g.152781243_152781253dup, NC_000004.12:g.152781242_152781253dup, NC_000004.12:g.152781241_152781253dup, NC_000004.12:g.152781240_152781253dup, NC_000004.12:g.152781239_152781253dup, NC_000004.12:g.152781238_152781253dup, NC_000004.12:g.152781237_152781253dup, NC_000004.11:g.153702392_153702405del, NC_000004.11:g.153702396_153702405del, NC_000004.11:g.153702397_153702405del, NC_000004.11:g.153702398_153702405del, NC_000004.11:g.153702399_153702405del, NC_000004.11:g.153702400_153702405del, NC_000004.11:g.153702402_153702405del, NC_000004.11:g.153702403_153702405del, NC_000004.11:g.153702404_153702405del, NC_000004.11:g.153702405del, NC_000004.11:g.153702405dup, NC_000004.11:g.153702404_153702405dup, NC_000004.11:g.153702403_153702405dup, NC_000004.11:g.153702402_153702405dup, NC_000004.11:g.153702401_153702405dup, NC_000004.11:g.153702400_153702405dup, NC_000004.11:g.153702399_153702405dup, NC_000004.11:g.153702398_153702405dup, NC_000004.11:g.153702397_153702405dup, NC_000004.11:g.153702396_153702405dup, NC_000004.11:g.153702395_153702405dup, NC_000004.11:g.153702394_153702405dup, NC_000004.11:g.153702393_153702405dup, NC_000004.11:g.153702392_153702405dup, NC_000004.11:g.153702391_153702405dup, NC_000004.11:g.153702390_153702405dup, NC_000004.11:g.153702389_153702405dup

Select item 14912156444.

rs1491215644 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:152778893 (GRCh38)
4:153700045 (GRCh37)
Canonical SPDI:: NC_000004.12:152778890:CACA:CA
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.00006/16 (TOPMED)
-=0.000078/11 (GnomAD)
HGVS:: NC_000004.12:g.152778891CA[1], NC_000004.11:g.153700043CA[1]

Select item 14911819605.

rs1491181960 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAA [Show Flanks]
Chromosome:: 4:152778891 (GRCh38)
4:153700044 (GRCh37)
Canonical SPDI:: NC_000004.12:152778891::T,NC_000004.12:152778891::TAA
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TAA=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.152778891_152778892insT, NC_000004.12:g.152778891_152778892insTAA, NC_000004.11:g.153700043_153700044insT, NC_000004.11:g.153700043_153700044insTAA

Select item 14910555476.

rs1491055547 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:152769054 (GRCh38)
4:153690207 (GRCh37)
Canonical SPDI:: NC_000004.12:152769054:A:AA
Gene:: TIGD4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.152769055dup, NC_000004.11:g.153690207dup

Select item 14910426127.

rs1491042612 has merged into rs112201682 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 4:152769057 (GRCh38)
4:153690209 (GRCh37)
Canonical SPDI:: NC_000004.12:152769055:TCT:T,NC_000004.12:152769055:TCT:TCTCT
Gene:: TIGD4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
TC=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.152769057_152769058del, NC_000004.12:g.152769057_152769058dup, NC_000004.11:g.153690209_153690210del, NC_000004.11:g.153690209_153690210dup

Select item 14909762338.

rs1490976233 has merged into rs35363005 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:152774930 (GRCh38)
4:153696082 (GRCh37)
Canonical SPDI:: NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:152774917:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TIGD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3367/1686 (1000Genomes)
T=0.35/14 (GENOME_DK)
T=0.4283/257 (NorthernSweden)
HGVS:: NC_000004.12:g.152774930_152774933del, NC_000004.12:g.152774931_152774933del, NC_000004.12:g.152774932_152774933del, NC_000004.12:g.152774933del, NC_000004.12:g.152774933dup, NC_000004.12:g.152774932_152774933dup, NC_000004.12:g.152774920_152774933dup, NC_000004.11:g.153696082_153696085del, NC_000004.11:g.153696083_153696085del, NC_000004.11:g.153696084_153696085del, NC_000004.11:g.153696085del, NC_000004.11:g.153696085dup, NC_000004.11:g.153696084_153696085dup, NC_000004.11:g.153696072_153696085dup

Select item 14907924999.

rs1490792499 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149057649510.

rs1490576495 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 4:152776086 (GRCh38)
4:153697239 (GRCh37)
Canonical SPDI:: NC_000004.12:152776086:ACA:ACACA
Gene:: TIGD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0.000214/3 (ALFA)
AC=0.000038/10 (TOPMED)
AC=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.152776088_152776089dup, NC_000004.11:g.153697240_153697241dup

Select item 149039919411.

rs1490399194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:152770213 (GRCh38)
4:153691365 (GRCh37)
Canonical SPDI:: NC_000004.12:152770212:T:C
Gene:: TIGD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.152770213T>C, NC_000004.11:g.153691365T>C, XM_005262807.5:c.792A>G, XM_005262807.4:c.792A>G, XM_005262807.3:c.792A>G, XM_005262807.2:c.792A>G, XM_005262807.1:c.792A>G, NM_145720.4:c.792A>G, NM_145720.3:c.792A>G

Select item 149027674312.

rs1490276743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:152776494 (GRCh38)
4:153697646 (GRCh37)
Canonical SPDI:: NC_000004.12:152776493:T:C
Gene:: TIGD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.152776494T>C, NC_000004.11:g.153697646T>C

Select item 148946707013.

rs1489467070 [Homo sapiens]

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

Select item 148933448414.

rs1489334484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:152769736 (GRCh38)
4:153690888 (GRCh37)
Canonical SPDI:: NC_000004.12:152769735:C:T
Gene:: TIGD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.152769736C>T, NC_000004.11:g.153690888C>T, XM_005262807.5:c.1269G>A, XM_005262807.4:c.1269G>A, XM_005262807.3:c.1269G>A, XM_005262807.2:c.1269G>A, XM_005262807.1:c.1269G>A, NM_145720.4:c.1269G>A, NM_145720.3:c.1269G>A

Select item 148914015815.

rs1489140158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:152777586 (GRCh38)
4:153698738 (GRCh37)
Canonical SPDI:: NC_000004.12:152777585:A:G
Gene:: TIGD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.152777586A>G, NC_000004.11:g.153698738A>G

Select item 148908668416.

rs1489086684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 4:152780784 (GRCh38)
4:153701936 (GRCh37)
Canonical SPDI:: NC_000004.12:152780783:T:A,NC_000004.12:152780783:T:G
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.152780784T>A, NC_000004.12:g.152780784T>G, NC_000004.11:g.153701936T>A, NC_000004.11:g.153701936T>G

Select item 148894160017.

rs1488941600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:152776780 (GRCh38)
4:153697932 (GRCh37)
Canonical SPDI:: NC_000004.12:152776779:A:C,NC_000004.12:152776779:A:G
Gene:: TIGD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.152776780A>C, NC_000004.12:g.152776780A>G, NC_000004.11:g.153697932A>C, NC_000004.11:g.153697932A>G

Select item 148888209718.

rs1488882097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:152773526 (GRCh38)
4:153694678 (GRCh37)
Canonical SPDI:: NC_000004.12:152773525:A:C
Gene:: TIGD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.152773526A>C, NC_000004.11:g.153694678A>C

Select item 148843971719.

rs1488439717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:152778905 (GRCh38)
4:153700057 (GRCh37)
Canonical SPDI:: NC_000004.12:152778904:G:A,NC_000004.12:152778904:G:C,NC_000004.12:152778904:G:T
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.152778905G>A, NC_000004.12:g.152778905G>C, NC_000004.12:g.152778905G>T, NC_000004.11:g.153700057G>A, NC_000004.11:g.153700057G>C, NC_000004.11:g.153700057G>T

Select item 148825244320.

rs1488252443 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACT [Show Flanks]
Chromosome:: 4:152778999 (GRCh38)
4:153700152 (GRCh37)
Canonical SPDI:: NC_000004.12:152778999:AACT:AACTAACT
Gene:: ARFIP1 (Varview), TIGD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AACTAACT=0./0 (ALFA)
HGVS:: NC_000004.12:g.152779000_152779003dup, NC_000004.11:g.153700152_153700155dup

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