SNP Links for Gene (Select 101929402) - SNP

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Select item 14914012641.

rs1491401264 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:28699408 (GRCh38)
8:28556925 (GRCh37)
Canonical SPDI:: NC_000008.11:28699407:CT:
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.28699408_28699409del, NC_000008.10:g.28556925_28556926del

Select item 14907380242.

rs1490738024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:28701297 (GRCh38)
8:28558814 (GRCh37)
Canonical SPDI:: NC_000008.11:28701296:A:G
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000008.11:g.28701297A>G, NC_000008.10:g.28558814A>G

Select item 14905745403.

rs1490574540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:28700929 (GRCh38)
8:28558446 (GRCh37)
Canonical SPDI:: NC_000008.11:28700928:C:G
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.28700929C>G, NC_000008.10:g.28558446C>G

Select item 14892886674.

rs1489288667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:28701801 (GRCh38)
8:28559318 (GRCh37)
Canonical SPDI:: NC_000008.11:28701800:G:A,NC_000008.11:28701800:G:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000697/2 (KOREAN)
HGVS:: NC_000008.11:g.28701801G>A, NC_000008.11:g.28701801G>C, NC_000008.10:g.28559318G>A, NC_000008.10:g.28559318G>C

Select item 14877418005.

rs1487741800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28700446 (GRCh38)
8:28557963 (GRCh37)
Canonical SPDI:: NC_000008.11:28700445:C:T
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000008.11:g.28700446C>T, NC_000008.10:g.28557963C>T

Select item 14876394146.

rs1487639414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28698407 (GRCh38)
8:28555924 (GRCh37)
Canonical SPDI:: NC_000008.11:28698406:T:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.28698407T>C, NC_000008.10:g.28555924T>C, NR_126027.1:n.776A>G

Select item 14868312907.

rs1486831290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:28700754 (GRCh38)
8:28558271 (GRCh37)
Canonical SPDI:: NC_000008.11:28700753:G:A
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.28700754G>A, NC_000008.10:g.28558271G>A

Select item 14855951268.

rs1485595126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:28700855 (GRCh38)
8:28558372 (GRCh37)
Canonical SPDI:: NC_000008.11:28700854:T:G
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000008.11:g.28700855T>G, NC_000008.10:g.28558372T>G

Select item 14851340239.

rs1485134023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:28702277 (GRCh38)
8:28559794 (GRCh37)
Canonical SPDI:: NC_000008.11:28702276:G:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.28702277G>C, NC_000008.10:g.28559794G>C, XM_047421517.1:c.-10542G>C

Select item 148480246010.

rs1484802460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28702599 (GRCh38)
8:28560116 (GRCh37)
Canonical SPDI:: NC_000008.11:28702598:C:T
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000008.11:g.28702599C>T, NC_000008.10:g.28560116C>T, XM_047421517.1:c.-10220C>T

Select item 148441624711.

rs1484416247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:28702755 (GRCh38)
8:28560272 (GRCh37)
Canonical SPDI:: NC_000008.11:28702754:A:T
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.28702755A>T, NC_000008.10:g.28560272A>T, XM_047421517.1:c.-10064A>T

Select item 148404963512.

rs1484049635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:28699262 (GRCh38)
8:28556779 (GRCh37)
Canonical SPDI:: NC_000008.11:28699261:A:G
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000008.11:g.28699262A>G, NC_000008.10:g.28556779A>G

Select item 148343253513.

rs1483432535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28699747 (GRCh38)
8:28557264 (GRCh37)
Canonical SPDI:: NC_000008.11:28699746:T:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_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_000008.11:g.28699747T>C, NC_000008.10:g.28557264T>C, NR_126027.1:n.402A>G

Select item 148241218614.

rs1482412186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:28698837 (GRCh38)
8:28556354 (GRCh37)
Canonical SPDI:: NC_000008.11:28698836:T:A,NC_000008.11:28698836:T:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_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_000008.11:g.28698837T>A, NC_000008.11:g.28698837T>C, NC_000008.10:g.28556354T>A, NC_000008.10:g.28556354T>C

Select item 148208886815.

rs1482088868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:28698381 (GRCh38)
8:28555898 (GRCh37)
Canonical SPDI:: NC_000008.11:28698380:G:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_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_000008.11:g.28698381G>C, NC_000008.10:g.28555898G>C

Select item 148172755016.

rs1481727550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:28700502 (GRCh38)
8:28558019 (GRCh37)
Canonical SPDI:: NC_000008.11:28700501:G:T
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.28700502G>T, NC_000008.10:g.28558019G>T

Select item 148081289317.

rs1480812893 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:28701043 (GRCh38)
8:28558561 (GRCh37)
Canonical SPDI:: NC_000008.11:28701043:AAA:AAAA
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.28701046dup, NC_000008.10:g.28558563dup

Select item 148078425818.

rs1480784258 has merged into rs58752787 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 8:28700058 (GRCh38)
8:28557575 (GRCh37)
Canonical SPDI:: NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:28700048:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.4625/2316 (1000Genomes)
HGVS:: NC_000008.11:g.28700058_28700064del, NC_000008.11:g.28700059_28700064del, NC_000008.11:g.28700062_28700064del, NC_000008.11:g.28700063_28700064del, NC_000008.11:g.28700064del, NC_000008.11:g.28700064dup, NC_000008.11:g.28700063_28700064dup, NC_000008.10:g.28557575_28557581del, NC_000008.10:g.28557576_28557581del, NC_000008.10:g.28557579_28557581del, NC_000008.10:g.28557580_28557581del, NC_000008.10:g.28557581del, NC_000008.10:g.28557581dup, NC_000008.10:g.28557580_28557581dup

Select item 148032145819.

rs1480321458 [Homo sapiens]

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

Select item 148010147120.

rs1480101471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28699637 (GRCh38)
8:28557154 (GRCh37)
Canonical SPDI:: NC_000008.11:28699636:T:C
Gene:: EXTL3 (Varview), EXTL3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.28699637T>C, NC_000008.10:g.28557154T>C, NR_126027.1:n.512A>G

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