SNP Links for Gene (Select 404266) - SNP

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Select item 14914592811.

rs1491459281 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 17:48593832 (GRCh38)
17:46671195 (GRCh37)
Canonical SPDI:: NC_000017.11:48593832::A,NC_000017.11:48593832::C
Gene:: HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00007/2 (TOMMO)
HGVS:: NC_000017.11:g.48593832_48593833insA, NC_000017.11:g.48593832_48593833insC, NC_000017.10:g.46671194_46671195insA, NC_000017.10:g.46671194_46671195insC, NG_046953.1:g.16160_16161insT, NG_046953.1:g.16160_16161insG

Select item 14913109592.

rs1491310959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:48595805 (GRCh38)
17:46673167 (GRCh37)
Canonical SPDI:: NC_000017.11:48595803:TAT:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0143/53 (TWINSUK)
-=0.0215/83 (ALSPAC)
HGVS:: NC_000017.11:g.48595805_48595806del, NC_000017.10:g.46673167_46673168del, NG_046953.1:g.14188_14189del, NM_018952.5:c.*608_*609del, NM_018952.4:c.*608_*609del, NM_001369397.2:c.*608_*609del, NM_001369397.1:c.*608_*609del, XM_011524727.4:c.*608_*609del, XM_011524727.3:c.*608_*609del, XM_011524727.2:c.*608_*609del, XM_011524727.1:c.*608_*609del, XM_047435908.1:c.*608_*609del, NM_156036.1:c.*1923_*1924del, NM_156037.1:c.*608_*609del

Select item 14912494813.

rs1491249481 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGG [Show Flanks]
Chromosome:: 17:48590879 (GRCh38)
17:46668242 (GRCh37)
Canonical SPDI:: NC_000017.11:48590879:GGGGG:GGGGGGGG
Gene:: HOXB3 (Varview), HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0.000224/1 (ALFA)
GGG=0.000007/1 (GnomAD)
GGG=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.48590882_48590884dup, NC_000017.10:g.46668244_46668246dup

Select item 14912011054.

rs1491201105 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:48590879 (GRCh38)
17:46668241 (GRCh37)
Canonical SPDI:: NC_000017.11:48590878:AG:
Gene:: HOXB3 (Varview), HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000017.11:g.48590879_48590880del, NC_000017.10:g.46668241_46668242del

Select item 14911004635.

rs1491100463 [Homo sapiens]

Variant type:: SNV:
Alleles:: TG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14910250226.

rs1491025022 has merged into rs35402907 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:48590826 (GRCh38)
17:46668188 (GRCh37)
Canonical SPDI:: NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48590813:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HOXB3 (Varview), HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000159/42 (TOPMED)
HGVS:: NC_000017.11:g.48590826_48590833del, NC_000017.11:g.48590827_48590833del, NC_000017.11:g.48590828_48590833del, NC_000017.11:g.48590829_48590833del, NC_000017.11:g.48590830_48590833del, NC_000017.11:g.48590831_48590833del, NC_000017.11:g.48590832_48590833del, NC_000017.11:g.48590833del, NC_000017.11:g.48590833dup, NC_000017.11:g.48590832_48590833dup, NC_000017.11:g.48590831_48590833dup, NC_000017.11:g.48590830_48590833dup, NC_000017.11:g.48590829_48590833dup, NC_000017.11:g.48590828_48590833dup, NC_000017.11:g.48590827_48590833dup, NC_000017.11:g.48590826_48590833dup, NC_000017.11:g.48590825_48590833dup, NC_000017.11:g.48590824_48590833dup, NC_000017.11:g.48590821_48590833dup, NC_000017.11:g.48590820_48590833dup, NC_000017.10:g.46668188_46668195del, NC_000017.10:g.46668189_46668195del, NC_000017.10:g.46668190_46668195del, NC_000017.10:g.46668191_46668195del, NC_000017.10:g.46668192_46668195del, NC_000017.10:g.46668193_46668195del, NC_000017.10:g.46668194_46668195del, NC_000017.10:g.46668195del, NC_000017.10:g.46668195dup, NC_000017.10:g.46668194_46668195dup, NC_000017.10:g.46668193_46668195dup, NC_000017.10:g.46668192_46668195dup, NC_000017.10:g.46668191_46668195dup, NC_000017.10:g.46668190_46668195dup, NC_000017.10:g.46668189_46668195dup, NC_000017.10:g.46668188_46668195dup, NC_000017.10:g.46668187_46668195dup, NC_000017.10:g.46668186_46668195dup, NC_000017.10:g.46668183_46668195dup, NC_000017.10:g.46668182_46668195dup

Select item 14906169817.

rs1490616981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48602073 (GRCh38)
17:46679435 (GRCh37)
Canonical SPDI:: NC_000017.11:48602072:A:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: splice_acceptor_variant,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_000017.11:g.48602073A>G, NC_000017.10:g.46679435A>G, NG_046953.1:g.7920T>C

Select item 14905065248.

rs1490506524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTGGGTGGGAGGGGGC [Show Flanks]
Chromosome:: 17:48592502 (GRCh38)
17:46669865 (GRCh37)
Canonical SPDI:: NC_000017.11:48592502:GGGAGGGGGCACTGGGTGGGAGGGGGC:GGGAGGGGGCACTGGGTGGGAGGGGGCACTGGGTGGGAGGGGGC
Gene:: HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGGGGGCACTGGGTGGGAGGGGGCACTGGGTGGGAGGGGGC=0.00008/1 (ALFA)
GGGAGGGGGCACTGGGT=0.00047/3 (1000Genomes)
GGGAGGGGGCACTGGGT=0.00128/75 (GnomAD)
HGVS:: NC_000017.11:g.48592513_48592529dup, NC_000017.10:g.46669875_46669891dup, NG_046953.1:g.17474_17490dup

Select item 14904307099.

rs1490430709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:48597896 (GRCh38)
17:46675258 (GRCh37)
Canonical SPDI:: NC_000017.11:48597895:C:G,NC_000017.11:48597895:C:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.48597896C>G, NC_000017.11:g.48597896C>T, NC_000017.10:g.46675258C>G, NC_000017.10:g.46675258C>T, NG_046953.1:g.12097G>C, NG_046953.1:g.12097G>A, NM_018952.5:c.255G>C, NM_018952.5:c.255G>A, NM_018952.4:c.255G>C, NM_018952.4:c.255G>A, NM_001369397.2:c.255G>C, NM_001369397.2:c.255G>A, NM_001369397.1:c.255G>C, NM_001369397.1:c.255G>A, XM_011524727.4:c.447G>C, XM_011524727.4:c.447G>A, XM_011524727.3:c.447G>C, XM_011524727.3:c.447G>A, XM_011524727.2:c.447G>C, XM_011524727.2:c.447G>A, XM_011524727.1:c.447G>C, XM_011524727.1:c.447G>A, XM_047435908.1:c.255G>C, XM_047435908.1:c.255G>A, NM_156036.1:c.255G>C, NM_156036.1:c.255G>A, NM_156037.1:c.255G>C, NM_156037.1:c.255G>A, NP_061825.2:p.Glu85Asp, NP_001356326.1:p.Glu85Asp, XP_011523029.1:p.Glu149Asp, XP_047291864.1:p.Glu85Asp

Select item 149029552510.

rs1490295525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:48602853 (GRCh38)
17:46680215 (GRCh37)
Canonical SPDI:: NC_000017.11:48602852:G:C
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48602853G>C, NC_000017.10:g.46680215G>C, NG_046953.1:g.7140C>G

Select item 149015058111.

rs1490150581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:48596771 (GRCh38)
17:46674133 (GRCh37)
Canonical SPDI:: NC_000017.11:48596770:T:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48596771T>G, NC_000017.10:g.46674133T>G, NG_046953.1:g.13222A>C, NM_156036.1:c.*957A>C

Select item 149014817712.

rs1490148177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:48594717 (GRCh38)
17:46672080 (GRCh37)
Canonical SPDI:: NC_000017.11:48594717:T:TT
Gene:: HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48594718dup, NC_000017.10:g.46672080dup, NG_046953.1:g.15275dup

Select item 149011680413.

rs1490116804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:48597944 (GRCh38)
17:46675306 (GRCh37)
Canonical SPDI:: NC_000017.11:48597943:C:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48597944C>G, NC_000017.10:g.46675306C>G, NG_046953.1:g.12049G>C, NM_018952.5:c.207G>C, NM_018952.4:c.207G>C, NM_001369397.2:c.207G>C, NM_001369397.1:c.207G>C, XM_011524727.4:c.399G>C, XM_011524727.3:c.399G>C, XM_011524727.2:c.399G>C, XM_011524727.1:c.399G>C, XM_047435908.1:c.207G>C, NM_156036.1:c.207G>C, NM_156037.1:c.207G>C

Select item 148998417814.

rs1489984178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48594197 (GRCh38)
17:46671559 (GRCh37)
Canonical SPDI:: NC_000017.11:48594196:G:A
Gene:: HOXB5 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48594197G>A, NC_000017.10:g.46671559G>A, NG_046953.1:g.15796C>T

Select item 148974768915.

rs1489747689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48602051 (GRCh38)
17:46679413 (GRCh37)
Canonical SPDI:: NC_000017.11:48602050:A:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.48602051A>G, NC_000017.10:g.46679413A>G, NG_046953.1:g.7942T>C

Select item 148938833216.

rs1489388332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48603478 (GRCh38)
17:46680840 (GRCh37)
Canonical SPDI:: NC_000017.11:48603477:T:C
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48603478T>C, NC_000017.10:g.46680840T>C, NG_046953.1:g.6515A>G

Select item 148935236117.

rs1489352361 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAAAC>- [Show Flanks]
Chromosome:: 17:48589329 (GRCh38)
17:46666691 (GRCh37)
Canonical SPDI:: NC_000017.11:48589326:ACTTAAAC:AC
Gene:: HOXB3 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48589329_48589334del, NC_000017.10:g.46666691_46666696del

Select item 148918450218.

rs1489184502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:48589021 (GRCh38)
17:46666383 (GRCh37)
Canonical SPDI:: NC_000017.11:48589020:C:A,NC_000017.11:48589020:C:T
Gene:: HOXB3 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.48589021C>A, NC_000017.11:g.48589021C>T, NC_000017.10:g.46666383C>A, NC_000017.10:g.46666383C>T

Select item 148899846519.

rs1488998465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48588636 (GRCh38)
17:46665998 (GRCh37)
Canonical SPDI:: NC_000017.11:48588635:A:G
Gene:: HOXB3 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48588636A>G, NC_000017.10:g.46665998A>G

Select item 148877215020.

rs1488772150 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:48602472 (GRCh38)
17:46679834 (GRCh37)
Canonical SPDI:: NC_000017.11:48602471:TTTTT:TTTT
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48602476del, NC_000017.10:g.46679838del, NG_046953.1:g.7521del

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