SNP Links for Gene (Select 100128511) - SNP

Links from Gene

Items: 1 to 20 of 903

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Select item 14908926551.

rs1490892655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:21173862 (GRCh38)
10:21462791 (GRCh37)
Canonical SPDI:: NC_000010.11:21173861:G:A,NC_000010.11:21173861:G:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.21173862G>A, NC_000010.11:g.21173862G>T, NC_000010.10:g.21462791G>A, NC_000010.10:g.21462791G>T, NG_017092.1:g.5326C>T, NG_017092.1:g.5326C>A, NM_213569.2:c.-29C>T, NM_213569.2:c.-29C>A, NM_001173484.2:c.-29C>T, NM_001173484.2:c.-29C>A, NM_001173484.1:c.-29C>T, NM_001173484.1:c.-29C>A, NM_001377324.1:c.-187C>T, NM_001377324.1:c.-187C>A, NM_001377322.1:c.-29C>T, NM_001377322.1:c.-29C>A, XM_047424444.1:c.-29C>T, XM_047424444.1:c.-29C>A

Select item 14890207612.

rs1489020761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:21173403 (GRCh38)
10:21462332 (GRCh37)
Canonical SPDI:: NC_000010.11:21173402:A:G
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.21173403A>G, NC_000010.10:g.21462332A>G, NG_017092.1:g.5785T>C

Select item 14888879213.

rs1488887921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:21172455 (GRCh38)
10:21461384 (GRCh37)
Canonical SPDI:: NC_000010.11:21172454:T:G
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.21172455T>G, NC_000010.10:g.21461384T>G, NG_017092.1:g.6733A>C, NM_213569.2:c.92A>C, NM_001173484.2:c.92A>C, NM_001173484.1:c.92A>C, NM_001377324.1:c.35A>C, NM_001377322.1:c.92A>C, NM_001377323.1:c.44A>C, NM_001377325.1:c.26A>C, NM_001377328.1:c.-17A>C, NM_001377327.1:c.-17A>C, NM_001377326.1:c.-17A>C, XM_047424444.1:c.92A>C, NP_998734.1:p.His31Pro, NP_001166955.1:p.His31Pro, NP_001364253.1:p.His12Pro, NP_001364251.1:p.His31Pro, NP_001364252.1:p.His15Pro, NP_001364254.1:p.His9Pro, XP_047280400.1:p.His31Pro

Select item 14873731524.

rs1487373152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21173790 (GRCh38)
10:21462719 (GRCh37)
Canonical SPDI:: NC_000010.11:21173789:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_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_000010.11:g.21173790G>A, NC_000010.10:g.21462719G>A, NG_017092.1:g.5398C>T, NM_213569.2:c.44C>T, NM_001173484.2:c.44C>T, NM_001173484.1:c.44C>T, NM_001377324.1:c.-115C>T, NM_001377322.1:c.44C>T, XM_047424444.1:c.44C>T, NP_998734.1:p.Thr15Ile, NP_001166955.1:p.Thr15Ile, NP_001364251.1:p.Thr15Ile, XP_047280400.1:p.Thr15Ile

Select item 14868493685.

rs1486849368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21174331 (GRCh38)
10:21463260 (GRCh37)
Canonical SPDI:: NC_000010.11:21174330:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.21174331G>A, NC_000010.10:g.21463260G>A, NG_017092.1:g.4857C>T, NR_046284.1:n.30G>A

Select item 14867375496.

rs1486737549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21175191 (GRCh38)
10:21464120 (GRCh37)
Canonical SPDI:: NC_000010.11:21175190:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_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_000010.11:g.21175191G>A, NC_000010.10:g.21464120G>A, NG_017092.1:g.3997C>T

Select item 14857348057.

rs1485734805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:21174128 (GRCh38)
10:21463057 (GRCh37)
Canonical SPDI:: NC_000010.11:21174127:C:A,NC_000010.11:21174127:C:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000010.11:g.21174128C>A, NC_000010.11:g.21174128C>T, NC_000010.10:g.21463057C>A, NC_000010.10:g.21463057C>T, NG_017092.1:g.5060G>T, NG_017092.1:g.5060G>A, NM_213569.2:c.-295G>T, NM_213569.2:c.-295G>A, XM_047424444.1:c.-295G>T, XM_047424444.1:c.-295G>A, NM_001173484.1:c.-295G>T, NM_001173484.1:c.-295G>A

Select item 14845607638.

rs1484560763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:21175110 (GRCh38)
10:21464039 (GRCh37)
Canonical SPDI:: NC_000010.11:21175109:A:G
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_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_000010.11:g.21175110A>G, NC_000010.10:g.21464039A>G, NG_017092.1:g.4078T>C

Select item 14844656289.

rs1484465628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:21172237 (GRCh38)
10:21461166 (GRCh37)
Canonical SPDI:: NC_000010.11:21172236:G:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.21172237G>T, NC_000010.10:g.21461166G>T, NG_017092.1:g.6951C>A

Select item 148419499410.

rs1484194994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:21172792 (GRCh38)
10:21461721 (GRCh37)
Canonical SPDI:: NC_000010.11:21172791:G:A,NC_000010.11:21172791:G:C
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.0005/8 (TOMMO)
HGVS:: NC_000010.11:g.21172792G>A, NC_000010.11:g.21172792G>C, NC_000010.10:g.21461721G>A, NC_000010.10:g.21461721G>C, NG_017092.1:g.6396C>T, NG_017092.1:g.6396C>G, NM_001377323.1:c.-82C>T, NM_001377323.1:c.-82C>G, NM_001377325.1:c.-82C>T, NM_001377325.1:c.-82C>G

Select item 148257509911.

rs1482575099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:21173496 (GRCh38)
10:21462425 (GRCh37)
Canonical SPDI:: NC_000010.11:21173495:A:G
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.21173496A>G, NC_000010.10:g.21462425A>G, NG_017092.1:g.5692T>C

Select item 148157399812.

rs1481573998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21173825 (GRCh38)
10:21462754 (GRCh37)
Canonical SPDI:: NC_000010.11:21173824:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.21173825G>A, NC_000010.10:g.21462754G>A, NG_017092.1:g.5363C>T, NM_213569.2:c.9C>T, NM_001173484.2:c.9C>T, NM_001173484.1:c.9C>T, NM_001377324.1:c.-150C>T, NM_001377322.1:c.9C>T, XM_047424444.1:c.9C>T

Select item 148093522013.

rs1480935220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:21173545 (GRCh38)
10:21462474 (GRCh37)
Canonical SPDI:: NC_000010.11:21173544:A:G
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.21173545A>G, NC_000010.10:g.21462474A>G, NG_017092.1:g.5643T>C

Select item 148023238914.

rs1480232389 [Homo sapiens]

Variant type:: DEL
Alleles:: AACTC>- [Show Flanks]
Chromosome:: 10:21175017 (GRCh38)
10:21463946 (GRCh37)
Canonical SPDI:: NC_000010.11:21175016:AACTC:
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.21175017_21175021del, NC_000010.10:g.21463946_21463950del, NG_017092.1:g.4167_4171del

Select item 147842791115.

rs1478427911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:21173216 (GRCh38)
10:21462145 (GRCh37)
Canonical SPDI:: NC_000010.11:21173215:C:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_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_000010.11:g.21173216C>T, NC_000010.10:g.21462145C>T, NG_017092.1:g.5972G>A

Select item 147779983816.

rs1477799838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:21173401 (GRCh38)
10:21462330 (GRCh37)
Canonical SPDI:: NC_000010.11:21173400:G:A,NC_000010.11:21173400:G:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.21173401G>A, NC_000010.11:g.21173401G>T, NC_000010.10:g.21462330G>A, NC_000010.10:g.21462330G>T, NG_017092.1:g.5787C>T, NG_017092.1:g.5787C>A

Select item 147716417917.

rs1477164179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:21173529 (GRCh38)
10:21462458 (GRCh37)
Canonical SPDI:: NC_000010.11:21173528:T:A,NC_000010.11:21173528:T:C
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_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_000010.11:g.21173529T>A, NC_000010.11:g.21173529T>C, NC_000010.10:g.21462458T>A, NC_000010.10:g.21462458T>C, NG_017092.1:g.5659A>T, NG_017092.1:g.5659A>G

Select item 147647432618.

rs1476474326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:21174186 (GRCh38)
10:21463115 (GRCh37)
Canonical SPDI:: NC_000010.11:21174185:G:A,NC_000010.11:21174185:G:C
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.21174186G>A, NC_000010.11:g.21174186G>C, NC_000010.10:g.21463115G>A, NC_000010.10:g.21463115G>C, NG_017092.1:g.5002C>T, NG_017092.1:g.5002C>G, NM_213569.2:c.-353C>T, NM_213569.2:c.-353C>G, XM_047424444.1:c.-353C>T, XM_047424444.1:c.-353C>G, NM_001173484.1:c.-353C>T, NM_001173484.1:c.-353C>G

Select item 147621636819.

rs1476216368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:21175331 (GRCh38)
10:21464260 (GRCh37)
Canonical SPDI:: NC_000010.11:21175330:A:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000010.11:g.21175331A>T, NC_000010.10:g.21464260A>T, NG_017092.1:g.3857T>A

Select item 147526012920.

rs1475260129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:21172440 (GRCh38)
10:21461369 (GRCh37)
Canonical SPDI:: NC_000010.11:21172439:T:C
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.21172440T>C, NC_000010.10:g.21461369T>C, NG_017092.1:g.6748A>G, NM_213569.2:c.107A>G, NM_001173484.2:c.107A>G, NM_001173484.1:c.107A>G, NM_001377324.1:c.50A>G, NM_001377322.1:c.107A>G, NM_001377323.1:c.59A>G, NM_001377325.1:c.41A>G, NM_001377328.1:c.-2A>G, NM_001377327.1:c.-2A>G, NM_001377326.1:c.-2A>G, XM_047424444.1:c.107A>G, NP_998734.1:p.Lys36Arg, NP_001166955.1:p.Lys36Arg, NP_001364253.1:p.Lys17Arg, NP_001364251.1:p.Lys36Arg, NP_001364252.1:p.Lys20Arg, NP_001364254.1:p.Lys14Arg, XP_047280400.1:p.Lys36Arg

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