SNP Links for Gene (Select 50856) - SNP

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Select item 14915743861.

rs1491574386 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:8138703 (GRCh38)
12:8291299 (GRCh37)
Canonical SPDI:: NC_000012.12:8138702:AA:
Gene:: CLEC4A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8138703_8138704del, NC_000012.11:g.8291299_8291300del

Select item 14915542352.

rs1491554235 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:8136563 (GRCh38)
12:8289159 (GRCh37)
Canonical SPDI:: NC_000012.12:8136562:CA:
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.8136563_8136564del, NC_000012.11:g.8289159_8289160del

Select item 14915164833.

rs1491516483 has merged into rs746479013 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 12:8111886 (GRCh38)
12:8264482 (GRCh37)
Canonical SPDI:: NC_000012.12:8111885:GGGGG:GGGG,NC_000012.12:8111885:GGGGG:GGGGGG
Gene:: CLEC4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.001136/21 (ALFA)
-=0./0 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.000695/184 (TOPMED)
-=0.000813/106 (GnomAD)
-=0.004692/21 (Estonian)
HGVS:: NC_000012.12:g.8111890del, NC_000012.12:g.8111890dup, NC_000012.11:g.8264486del, NC_000012.11:g.8264486dup

Select item 14912595604.

rs1491259560 has merged into rs35915549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:8133511 (GRCh38)
12:8286107 (GRCh37)
Canonical SPDI:: NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.0639/237 (TWINSUK)
T=0.0659/254 (ALSPAC)
T=0.1717/860 (1000Genomes)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000012.12:g.8133511_8133514del, NC_000012.12:g.8133512_8133514del, NC_000012.12:g.8133513_8133514del, NC_000012.12:g.8133514del, NC_000012.12:g.8133514dup, NC_000012.12:g.8133513_8133514dup, NC_000012.11:g.8286107_8286110del, NC_000012.11:g.8286108_8286110del, NC_000012.11:g.8286109_8286110del, NC_000012.11:g.8286110del, NC_000012.11:g.8286110dup, NC_000012.11:g.8286109_8286110dup

Select item 14911438145.

rs1491143814 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 12:8136563 (GRCh38)
12:8289160 (GRCh37)
Canonical SPDI:: NC_000012.12:8136563:A:ATAA
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
ATA=0.00002/2 (GnomAD)
HGVS:: NC_000012.12:g.8136564_8136565insTAA, NC_000012.11:g.8289160_8289161insTAA

Select item 14911068426.

rs1491106842 has merged into rs201811925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 12:8111921 (GRCh38)
12:8264517 (GRCh37)
Canonical SPDI:: NC_000012.12:8111919:TATAT:T,NC_000012.12:8111919:TATAT:TAT,NC_000012.12:8111919:TATAT:TATATAT
Gene:: CLEC4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.0387/569 (ALFA)
-=0.03944/152 (ALSPAC)
-=0.075/3 (GENOME_DK)
-=0.09833/59 (NorthernSweden)
HGVS:: NC_000012.12:g.8111921_8111924del, NC_000012.12:g.8111921AT[1], NC_000012.12:g.8111921AT[3], NC_000012.11:g.8264517_8264520del, NC_000012.11:g.8264517AT[1], NC_000012.11:g.8264517AT[3]

Select item 14911062227.

rs1491106222 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:8133500 (GRCh38)
12:8286096 (GRCh37)
Canonical SPDI:: NC_000012.12:8133499:AT:
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.8133500_8133501del, NC_000012.11:g.8286096_8286097del

Select item 14910731398.

rs1491073139 has merged into rs143094171 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATCTATATATATATATATAT [Show Flanks]
Chromosome:: 12:8131838 (GRCh38)
12:8284434 (GRCh37)
Canonical SPDI:: NC_000012.12:8131824:TATATATATATATAT:TATATATATATAT,NC_000012.12:8131824:TATATATATATATAT:TATATATATATATATAT,NC_000012.12:8131824:TATATATATATATAT:TATATATATATATATATAT,NC_000012.12:8131824:TATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:8131824:TATATATATATATAT:TATATATATATATATATATATAT,NC_000012.12:8131824:TATATATATATATAT:TATATATATATATATATCTATATATATATATATAT
Gene:: CLEC4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATAT=0./0 (ALFA)
-=0.2462/1233 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000012.12:g.8131826AT[6], NC_000012.12:g.8131826AT[8], NC_000012.12:g.8131826AT[9], NC_000012.12:g.8131826AT[10], NC_000012.12:g.8131826AT[11], NC_000012.12:g.8131825_8131839TA[8]TCTATATATATATATATAT[1], NC_000012.11:g.8284422AT[6], NC_000012.11:g.8284422AT[8], NC_000012.11:g.8284422AT[9], NC_000012.11:g.8284422AT[10], NC_000012.11:g.8284422AT[11], NC_000012.11:g.8284421_8284435TA[8]TCTATATATATATATATAT[1]

Select item 14910411119.

rs1491041111 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:8101707 (GRCh38)
12:8254303 (GRCh37)
Canonical SPDI:: NC_000012.12:8101704:AGAG:AG
Gene:: CLEC4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000012.12:g.8101705AG[1], NC_000012.11:g.8254301AG[1]

Select item 149092086210.

rs1490920862 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:8103405 (GRCh38)
12:8256001 (GRCh37)
Canonical SPDI:: NC_000012.12:8103404:TA:
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00379/45 (ALFA)
HGVS:: NC_000012.12:g.8103405_8103406del, NC_000012.11:g.8256001_8256002del

Select item 149089865711.

rs1490898657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8109747 (GRCh38)
12:8262343 (GRCh37)
Canonical SPDI:: NC_000012.12:8109746:A:G
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.8109747A>G, NC_000012.11:g.8262343A>G

Select item 149085072612.

rs1490850726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8125493 (GRCh38)
12:8278089 (GRCh37)
Canonical SPDI:: NC_000012.12:8125492:G:A
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8125493G>A, NC_000012.11:g.8278089G>A

Select item 149079040713.

rs1490790407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:8122532 (GRCh38)
12:8275128 (GRCh37)
Canonical SPDI:: NC_000012.12:8122531:G:A,NC_000012.12:8122531:G:T
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.8122532G>A, NC_000012.12:g.8122532G>T, NC_000012.11:g.8275128G>A, NC_000012.11:g.8275128G>T

Select item 149063575514.

rs1490635755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8121291 (GRCh38)
12:8273887 (GRCh37)
Canonical SPDI:: NC_000012.12:8121290:G:T
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8121291G>T, NC_000012.11:g.8273887G>T

Select item 149027213215.

rs1490272132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:8123988 (GRCh38)
12:8276584 (GRCh37)
Canonical SPDI:: NC_000012.12:8123987:T:A
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.8123988T>A, NC_000012.11:g.8276584T>A

Select item 149008774516.

rs1490087745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8109165 (GRCh38)
12:8261761 (GRCh37)
Canonical SPDI:: NC_000012.12:8109164:G:T
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000012.12:g.8109165G>T, NC_000012.11:g.8261761G>T

Select item 148993403717.

rs1489934037 [Homo sapiens]

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

Select item 148978332618.

rs1489783326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8127769 (GRCh38)
12:8280365 (GRCh37)
Canonical SPDI:: NC_000012.12:8127768:G:T
Gene:: CLEC4A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8127769G>T, NC_000012.11:g.8280365G>T, XM_011520684.3:c.-332G>T, XM_011520684.2:c.-332G>T, XM_011520684.1:c.-332G>T

Select item 148977862719.

rs1489778627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8108489 (GRCh38)
12:8261085 (GRCh37)
Canonical SPDI:: NC_000012.12:8108488:A:G
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.8108489A>G, NC_000012.11:g.8261085A>G

Select item 148973498220.

rs1489734982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8111830 (GRCh38)
12:8264426 (GRCh37)
Canonical SPDI:: NC_000012.12:8111829:G:A
Gene:: CLEC4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.8111830G>A, NC_000012.11:g.8264426G>A

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