SNP Links for Gene (Select 3238) - SNP

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Select item 14906376811.

rs1490637681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:176100991 (GRCh38)
2:176965719 (GRCh37)
Canonical SPDI:: NC_000002.12:176100990:A:T
Gene:: HOXD12 (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_000002.12:g.176100991A>T, NC_000002.11:g.176965719A>T, NM_021193.4:c.*231A>T

Select item 14897447952.

rs1489744795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:176100333 (GRCh38)
2:176965061 (GRCh37)
Canonical SPDI:: NC_000002.12:176100332:G:A,NC_000002.12:176100332:G:T
Gene:: HOXD12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176100333G>A, NC_000002.12:g.176100333G>T, NC_000002.11:g.176965061G>A, NC_000002.11:g.176965061G>T, NM_021193.4:c.532G>A, NM_021193.4:c.532G>T, NM_021193.3:c.532G>A, NM_021193.3:c.532G>T, NP_067016.3:p.Ala178Thr, NP_067016.3:p.Ala178Ser

Select item 14864620163.

rs1486462016 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:176098160 (GRCh38)
2:176962888 (GRCh37)
Canonical SPDI:: NC_000002.12:176098159:T:
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176098160del, NC_000002.11:g.176962888del

Select item 14863373324.

rs1486337332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:176098821 (GRCh38)
2:176963549 (GRCh37)
Canonical SPDI:: NC_000002.12:176098820:A:T
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.176098821A>T, NC_000002.11:g.176963549A>T

Select item 14855890335.

rs1485589033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176099213 (GRCh38)
2:176963941 (GRCh37)
Canonical SPDI:: NC_000002.12:176099212:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176099213C>T, NC_000002.11:g.176963941C>T

Select item 14848841606.

rs1484884160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176097886 (GRCh38)
2:176962614 (GRCh37)
Canonical SPDI:: NC_000002.12:176097885:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.176097886C>T, NC_000002.11:g.176962614C>T, NG_008137.1:g.10083C>T

Select item 14843270477.

rs1484327047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176099509 (GRCh38)
2:176964237 (GRCh37)
Canonical SPDI:: NC_000002.12:176099508:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.176099509C>T, NC_000002.11:g.176964237C>T

Select item 14841044438.

rs1484104443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176100508 (GRCh38)
2:176965236 (GRCh37)
Canonical SPDI:: NC_000002.12:176100507:G:C
Gene:: HOXD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176100508G>C, NC_000002.11:g.176965236G>C

Select item 14832054029.

rs1483205402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:176098832 (GRCh38)
2:176963560 (GRCh37)
Canonical SPDI:: NC_000002.12:176098831:C:A,NC_000002.12:176098831:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.176098832C>A, NC_000002.12:g.176098832C>T, NC_000002.11:g.176963560C>A, NC_000002.11:g.176963560C>T

Select item 148283526210.

rs1482835262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:176098416 (GRCh38)
2:176963144 (GRCh37)
Canonical SPDI:: NC_000002.12:176098415:C:G
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.176098416C>G, NC_000002.11:g.176963144C>G

Select item 148282827311.

rs1482828273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176099791 (GRCh38)
2:176964519 (GRCh37)
Canonical SPDI:: NC_000002.12:176099790:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176099791C>T, NC_000002.11:g.176964519C>T

Select item 148269056812.

rs1482690568 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:176099158 (GRCh38)
2:176963886 (GRCh37)
Canonical SPDI:: NC_000002.12:176099157:AAAA:AAA
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176099161del, NC_000002.11:g.176963889del

Select item 148231840913.

rs1482318409 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:176101070 (GRCh38)
2:176965798 (GRCh37)
Canonical SPDI:: NC_000002.12:176101069:CCCC:CCC
Gene:: HOXD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176101073del, NC_000002.11:g.176965801del, NM_021193.4:c.*313del

Select item 148188915214.

rs1481889152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176100321 (GRCh38)
2:176965049 (GRCh37)
Canonical SPDI:: NC_000002.12:176100320:A:G
Gene:: HOXD12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176100321A>G, NC_000002.11:g.176965049A>G, NM_021193.4:c.520A>G, NM_021193.3:c.520A>G, NP_067016.3:p.Met174Val

Select item 148083344415.

rs1480833444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:176100079 (GRCh38)
2:176964807 (GRCh37)
Canonical SPDI:: NC_000002.12:176100078:G:A,NC_000002.12:176100078:G:T
Gene:: HOXD12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176100079G>A, NC_000002.12:g.176100079G>T, NC_000002.11:g.176964807G>A, NC_000002.11:g.176964807G>T, NM_021193.4:c.278G>A, NM_021193.4:c.278G>T, NM_021193.3:c.278G>A, NM_021193.3:c.278G>T, NP_067016.3:p.Gly93Glu, NP_067016.3:p.Gly93Val

Select item 148078877616.

rs1480788776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:176097977 (GRCh38)
2:176962705 (GRCh37)
Canonical SPDI:: NC_000002.12:176097976:C:A
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.176097977C>A, NC_000002.11:g.176962705C>A

Select item 147918014617.

rs1479180146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:176099105 (GRCh38)
2:176963833 (GRCh37)
Canonical SPDI:: NC_000002.12:176099104:T:G
Gene:: HOXD12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176099105T>G, NC_000002.11:g.176963833T>G

Select item 147874541518.

rs1478745415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:176099856 (GRCh38)
2:176964584 (GRCh37)
Canonical SPDI:: NC_000002.12:176099855:C:G,NC_000002.12:176099855:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.176099856C>G, NC_000002.12:g.176099856C>T, NC_000002.11:g.176964584C>G, NC_000002.11:g.176964584C>T, NM_021193.4:c.55C>G, NM_021193.4:c.55C>T, NM_021193.3:c.55C>G, NM_021193.3:c.55C>T, NP_067016.3:p.Gln19Glu, NP_067016.3:p.Gln19Ter

Select item 147635772019.

rs1476357720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:176098576 (GRCh38)
2:176963304 (GRCh37)
Canonical SPDI:: NC_000002.12:176098575:C:G
Gene:: HOXD12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176098576C>G, NC_000002.11:g.176963304C>G

Select item 147618590120.

rs1476185901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:176100883 (GRCh38)
2:176965611 (GRCh37)
Canonical SPDI:: NC_000002.12:176100882:C:A,NC_000002.12:176100882:C:T
Gene:: HOXD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176100883C>A, NC_000002.12:g.176100883C>T, NC_000002.11:g.176965611C>A, NC_000002.11:g.176965611C>T, NM_021193.4:c.*123C>A, NM_021193.4:c.*123C>T

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