SNP Links for Nucleotide (Select 197313770) - SNP

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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 14902896352.

rs1490289635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:20784235 (GRCh38)
10:21073164 (GRCh37)
Canonical SPDI:: NC_000010.11:20784234:C:T
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000318/5 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.20784235C>T, NC_000010.10:g.21073164C>T, NG_017092.1:g.394953G>A, NM_006393.3:c.*1512G>A, NM_006393.2:c.*1512G>A, NM_213569.2:c.*1512G>A, NM_001173484.2:c.*1648G>A, NM_001173484.1:c.*1648G>A, NM_001377324.1:c.*1512G>A, NM_001377322.1:c.*1512G>A, NM_001377323.1:c.*1512G>A, NM_001377325.1:c.*1512G>A, NM_001377328.1:c.*1512G>A, NM_001377327.1:c.*1512G>A, NM_001377326.1:c.*1512G>A, XM_005252342.6:c.*1512G>A, XM_005252342.5:c.*1512G>A, XM_005252342.4:c.*1512G>A, XM_005252342.3:c.*1512G>A, XM_005252342.2:c.*1512G>A, XM_005252342.1:c.*1512G>A, XM_005252343.6:c.*1512G>A, XM_005252343.5:c.*1512G>A, XM_005252343.4:c.*1512G>A, XM_005252343.3:c.*1512G>A, XM_005252343.2:c.*1512G>A, XM_005252343.1:c.*1512G>A, XM_011519291.3:c.*1512G>A, XM_011519291.2:c.*1512G>A, XM_011519291.1:c.*1512G>A, XM_047424443.1:c.*1512G>A, XM_047424444.1:c.*1512G>A

Select item 14889835273.

rs1488983527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:20784157 (GRCh38)
10:21073086 (GRCh37)
Canonical SPDI:: NC_000010.11:20784156:C:T
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.20784157C>T, NC_000010.10:g.21073086C>T, NG_017092.1:g.395031G>A, NM_006393.3:c.*1590G>A, NM_006393.2:c.*1590G>A, NM_213569.2:c.*1590G>A, NM_001173484.2:c.*1726G>A, NM_001173484.1:c.*1726G>A, NM_001377324.1:c.*1590G>A, NM_001377322.1:c.*1590G>A, NM_001377323.1:c.*1590G>A, NM_001377325.1:c.*1590G>A, NM_001377328.1:c.*1590G>A, NM_001377327.1:c.*1590G>A, NM_001377326.1:c.*1590G>A, XM_005252342.6:c.*1590G>A, XM_005252342.5:c.*1590G>A, XM_005252342.4:c.*1590G>A, XM_005252342.3:c.*1590G>A, XM_005252342.2:c.*1590G>A, XM_005252342.1:c.*1590G>A, XM_005252343.6:c.*1590G>A, XM_005252343.5:c.*1590G>A, XM_005252343.4:c.*1590G>A, XM_005252343.3:c.*1590G>A, XM_005252343.2:c.*1590G>A, XM_005252343.1:c.*1590G>A, XM_011519291.3:c.*1590G>A, XM_011519291.2:c.*1590G>A, XM_011519291.1:c.*1590G>A, XM_047424443.1:c.*1590G>A, XM_047424444.1:c.*1590G>A

Select item 14888879214.

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 14875223155.

rs1487522315 [Homo sapiens]

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

Select item 14874554116.

rs1487455411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20782683 (GRCh38)
10:21071612 (GRCh37)
Canonical SPDI:: NC_000010.11:20782682:A:G
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20782683A>G, NC_000010.10:g.21071612A>G, NG_017092.1:g.396505T>C, NM_006393.3:c.*3064T>C, NM_006393.2:c.*3064T>C, NM_213569.2:c.*3064T>C, NM_001173484.2:c.*3200T>C, NM_001173484.1:c.*3200T>C, NM_001377324.1:c.*3064T>C, NM_001377322.1:c.*3064T>C, NM_001377323.1:c.*3064T>C, NM_001377325.1:c.*3064T>C, NM_001377328.1:c.*3064T>C, NM_001377327.1:c.*3064T>C, NM_001377326.1:c.*3064T>C, XM_005252342.6:c.*3064T>C, XM_005252342.5:c.*3064T>C, XM_005252342.4:c.*3064T>C, XM_005252342.3:c.*3064T>C, XM_005252342.2:c.*3064T>C, XM_005252342.1:c.*3064T>C, XM_005252343.6:c.*3064T>C, XM_005252343.5:c.*3064T>C, XM_005252343.4:c.*3064T>C, XM_005252343.3:c.*3064T>C, XM_005252343.2:c.*3064T>C, XM_005252343.1:c.*3064T>C, XM_011519291.3:c.*3064T>C, XM_011519291.2:c.*3064T>C, XM_011519291.1:c.*3064T>C, XM_047424443.1:c.*3064T>C, XM_047424444.1:c.*3064T>C

Select item 14873731527.

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 14870431038.

rs1487043103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:20784995 (GRCh38)
10:21073924 (GRCh37)
Canonical SPDI:: NC_000010.11:20784994:T:A
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.20784995T>A, NC_000010.10:g.21073924T>A, NG_017092.1:g.394193A>T, NM_006393.3:c.*752A>T, NM_006393.2:c.*752A>T, NM_213569.2:c.*752A>T, NM_001173484.2:c.*888A>T, NM_001173484.1:c.*888A>T, NM_001377324.1:c.*752A>T, NM_001377322.1:c.*752A>T, NM_001377323.1:c.*752A>T, NM_001377325.1:c.*752A>T, NM_001377328.1:c.*752A>T, NM_001377327.1:c.*752A>T, NM_001377326.1:c.*752A>T, XM_005252342.6:c.*752A>T, XM_005252342.5:c.*752A>T, XM_005252342.4:c.*752A>T, XM_005252342.3:c.*752A>T, XM_005252342.2:c.*752A>T, XM_005252342.1:c.*752A>T, XM_005252343.6:c.*752A>T, XM_005252343.5:c.*752A>T, XM_005252343.4:c.*752A>T, XM_005252343.3:c.*752A>T, XM_005252343.2:c.*752A>T, XM_005252343.1:c.*752A>T, XM_011519291.3:c.*752A>T, XM_011519291.2:c.*752A>T, XM_011519291.1:c.*752A>T, XM_047424443.1:c.*752A>T, XM_047424444.1:c.*752A>T

Select item 14869997959.

rs1486999795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:20781959 (GRCh38)
10:21070888 (GRCh37)
Canonical SPDI:: NC_000010.11:20781958:A:C
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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.20781959A>C, NC_000010.10:g.21070888A>C, NG_017092.1:g.397229T>G, NM_006393.3:c.*3788T>G, NM_006393.2:c.*3788T>G, NM_213569.2:c.*3788T>G, NM_001173484.2:c.*3924T>G, NM_001173484.1:c.*3924T>G, NM_001377324.1:c.*3788T>G, NM_001377322.1:c.*3788T>G, NM_001377323.1:c.*3788T>G, NM_001377325.1:c.*3788T>G, NM_001377328.1:c.*3788T>G, NM_001377327.1:c.*3788T>G, NM_001377326.1:c.*3788T>G, XM_005252342.6:c.*3788T>G, XM_005252342.5:c.*3788T>G, XM_005252342.4:c.*3788T>G, XM_005252342.3:c.*3788T>G, XM_005252342.2:c.*3788T>G, XM_005252342.1:c.*3788T>G, XM_005252343.6:c.*3788T>G, XM_005252343.5:c.*3788T>G, XM_005252343.4:c.*3788T>G, XM_005252343.3:c.*3788T>G, XM_005252343.2:c.*3788T>G, XM_005252343.1:c.*3788T>G, XM_011519291.3:c.*3788T>G, XM_011519291.2:c.*3788T>G, XM_011519291.1:c.*3788T>G, XM_047424443.1:c.*3788T>G, XM_047424444.1:c.*3788T>G

Select item 148692094010.

rs1486920940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20780318 (GRCh38)
10:21069247 (GRCh37)
Canonical SPDI:: NC_000010.11:20780317:G:A
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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.20780318G>A, NC_000010.10:g.21069247G>A, NG_017092.1:g.398870C>T, NM_006393.3:c.*5429C>T, NM_006393.2:c.*5429C>T, NM_213569.2:c.*5429C>T, NM_001173484.2:c.*5565C>T, NM_001173484.1:c.*5565C>T, NM_001377324.1:c.*5429C>T, NM_001377322.1:c.*5429C>T, NM_001377323.1:c.*5429C>T, NM_001377325.1:c.*5429C>T, NM_001377328.1:c.*5429C>T, NM_001377327.1:c.*5429C>T, NM_001377326.1:c.*5429C>T, XM_005252342.6:c.*5429C>T, XM_005252342.5:c.*5429C>T, XM_005252342.4:c.*5429C>T, XM_005252342.3:c.*5429C>T, XM_005252342.2:c.*5429C>T, XM_005252342.1:c.*5429C>T, XM_005252343.6:c.*5429C>T, XM_005252343.5:c.*5429C>T, XM_005252343.4:c.*5429C>T, XM_005252343.3:c.*5429C>T, XM_005252343.2:c.*5429C>T, XM_005252343.1:c.*5429C>T, XM_011519291.3:c.*5429C>T, XM_011519291.2:c.*5429C>T, XM_011519291.1:c.*5429C>T, XM_047424443.1:c.*5429C>T, XM_047424444.1:c.*5429C>T

Select item 148674492711.

rs1486744927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20785535 (GRCh38)
10:21074464 (GRCh37)
Canonical SPDI:: NC_000010.11:20785534:A:G
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20785535A>G, NC_000010.10:g.21074464A>G, NG_017092.1:g.393653T>C, NM_006393.3:c.*212T>C, NM_006393.2:c.*212T>C, NM_213569.2:c.*212T>C, NM_001173484.2:c.*348T>C, NM_001173484.1:c.*348T>C, NM_001377324.1:c.*212T>C, NM_001377322.1:c.*212T>C, NM_001377323.1:c.*212T>C, NM_001377325.1:c.*212T>C, NM_001377328.1:c.*212T>C, NM_001377327.1:c.*212T>C, NM_001377326.1:c.*212T>C, XM_005252342.6:c.*212T>C, XM_005252342.5:c.*212T>C, XM_005252342.4:c.*212T>C, XM_005252342.3:c.*212T>C, XM_005252342.2:c.*212T>C, XM_005252342.1:c.*212T>C, XM_005252343.6:c.*212T>C, XM_005252343.5:c.*212T>C, XM_005252343.4:c.*212T>C, XM_005252343.3:c.*212T>C, XM_005252343.2:c.*212T>C, XM_005252343.1:c.*212T>C, XM_011519291.3:c.*212T>C, XM_011519291.2:c.*212T>C, XM_011519291.1:c.*212T>C, XM_047424443.1:c.*212T>C, XM_047424444.1:c.*212T>C, NM_016365.1:c.*212T>C

Select item 148674057712.

rs1486740577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20783991 (GRCh38)
10:21072920 (GRCh37)
Canonical SPDI:: NC_000010.11:20783990:A:G
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.20783991A>G, NC_000010.10:g.21072920A>G, NG_017092.1:g.395197T>C, NM_006393.3:c.*1756T>C, NM_006393.2:c.*1756T>C, NM_213569.2:c.*1756T>C, NM_001173484.2:c.*1892T>C, NM_001173484.1:c.*1892T>C, NM_001377324.1:c.*1756T>C, NM_001377322.1:c.*1756T>C, NM_001377323.1:c.*1756T>C, NM_001377325.1:c.*1756T>C, NM_001377328.1:c.*1756T>C, NM_001377327.1:c.*1756T>C, NM_001377326.1:c.*1756T>C, XM_005252342.6:c.*1756T>C, XM_005252342.5:c.*1756T>C, XM_005252342.4:c.*1756T>C, XM_005252342.3:c.*1756T>C, XM_005252342.2:c.*1756T>C, XM_005252342.1:c.*1756T>C, XM_005252343.6:c.*1756T>C, XM_005252343.5:c.*1756T>C, XM_005252343.4:c.*1756T>C, XM_005252343.3:c.*1756T>C, XM_005252343.2:c.*1756T>C, XM_005252343.1:c.*1756T>C, XM_011519291.3:c.*1756T>C, XM_011519291.2:c.*1756T>C, XM_011519291.1:c.*1756T>C, XM_047424443.1:c.*1756T>C, XM_047424444.1:c.*1756T>C

Select item 148602775713.

rs1486027757 [Homo sapiens]

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

Select item 148588537114.

rs1485885371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20782805 (GRCh38)
10:21071734 (GRCh37)
Canonical SPDI:: NC_000010.11:20782804:A:G
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20782805A>G, NC_000010.10:g.21071734A>G, NG_017092.1:g.396383T>C, NM_006393.3:c.*2942T>C, NM_006393.2:c.*2942T>C, NM_213569.2:c.*2942T>C, NM_001173484.2:c.*3078T>C, NM_001173484.1:c.*3078T>C, NM_001377324.1:c.*2942T>C, NM_001377322.1:c.*2942T>C, NM_001377323.1:c.*2942T>C, NM_001377325.1:c.*2942T>C, NM_001377328.1:c.*2942T>C, NM_001377327.1:c.*2942T>C, NM_001377326.1:c.*2942T>C, XM_005252342.6:c.*2942T>C, XM_005252342.5:c.*2942T>C, XM_005252342.4:c.*2942T>C, XM_005252342.3:c.*2942T>C, XM_005252342.2:c.*2942T>C, XM_005252342.1:c.*2942T>C, XM_005252343.6:c.*2942T>C, XM_005252343.5:c.*2942T>C, XM_005252343.4:c.*2942T>C, XM_005252343.3:c.*2942T>C, XM_005252343.2:c.*2942T>C, XM_005252343.1:c.*2942T>C, XM_011519291.3:c.*2942T>C, XM_011519291.2:c.*2942T>C, XM_011519291.1:c.*2942T>C, XM_047424443.1:c.*2942T>C, XM_047424444.1:c.*2942T>C

Select item 148573480515.

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 148571239716.

rs1485712397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:20780537 (GRCh38)
10:21069466 (GRCh37)
Canonical SPDI:: NC_000010.11:20780536:T:C
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.20780537T>C, NC_000010.10:g.21069466T>C, NG_017092.1:g.398651A>G, NM_006393.3:c.*5210A>G, NM_006393.2:c.*5210A>G, NM_213569.2:c.*5210A>G, NM_001173484.2:c.*5346A>G, NM_001173484.1:c.*5346A>G, NM_001377324.1:c.*5210A>G, NM_001377322.1:c.*5210A>G, NM_001377323.1:c.*5210A>G, NM_001377325.1:c.*5210A>G, NM_001377328.1:c.*5210A>G, NM_001377327.1:c.*5210A>G, NM_001377326.1:c.*5210A>G, XM_005252342.6:c.*5210A>G, XM_005252342.5:c.*5210A>G, XM_005252342.4:c.*5210A>G, XM_005252342.3:c.*5210A>G, XM_005252342.2:c.*5210A>G, XM_005252342.1:c.*5210A>G, XM_005252343.6:c.*5210A>G, XM_005252343.5:c.*5210A>G, XM_005252343.4:c.*5210A>G, XM_005252343.3:c.*5210A>G, XM_005252343.2:c.*5210A>G, XM_005252343.1:c.*5210A>G, XM_011519291.3:c.*5210A>G, XM_011519291.2:c.*5210A>G, XM_011519291.1:c.*5210A>G, XM_047424443.1:c.*5210A>G, XM_047424444.1:c.*5210A>G

Select item 148559449017.

rs1485594490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20781654 (GRCh38)
10:21070583 (GRCh37)
Canonical SPDI:: NC_000010.11:20781653:A:G
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.20781654A>G, NC_000010.10:g.21070583A>G, NG_017092.1:g.397534T>C, NM_006393.3:c.*4093T>C, NM_006393.2:c.*4093T>C, NM_213569.2:c.*4093T>C, NM_001173484.2:c.*4229T>C, NM_001173484.1:c.*4229T>C, NM_001377324.1:c.*4093T>C, NM_001377322.1:c.*4093T>C, NM_001377323.1:c.*4093T>C, NM_001377325.1:c.*4093T>C, NM_001377328.1:c.*4093T>C, NM_001377327.1:c.*4093T>C, NM_001377326.1:c.*4093T>C, XM_005252342.6:c.*4093T>C, XM_005252342.5:c.*4093T>C, XM_005252342.4:c.*4093T>C, XM_005252342.3:c.*4093T>C, XM_005252342.2:c.*4093T>C, XM_005252342.1:c.*4093T>C, XM_005252343.6:c.*4093T>C, XM_005252343.5:c.*4093T>C, XM_005252343.4:c.*4093T>C, XM_005252343.3:c.*4093T>C, XM_005252343.2:c.*4093T>C, XM_005252343.1:c.*4093T>C, XM_011519291.3:c.*4093T>C, XM_011519291.2:c.*4093T>C, XM_011519291.1:c.*4093T>C, XM_047424443.1:c.*4093T>C, XM_047424444.1:c.*4093T>C

Select item 148531609318.

rs1485316093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20780841 (GRCh38)
10:21069770 (GRCh37)
Canonical SPDI:: NC_000010.11:20780840:G:A
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20780841G>A, NC_000010.10:g.21069770G>A, NG_017092.1:g.398347C>T, NM_006393.3:c.*4906C>T, NM_006393.2:c.*4906C>T, NM_213569.2:c.*4906C>T, NM_001173484.2:c.*5042C>T, NM_001173484.1:c.*5042C>T, NM_001377324.1:c.*4906C>T, NM_001377322.1:c.*4906C>T, NM_001377323.1:c.*4906C>T, NM_001377325.1:c.*4906C>T, NM_001377328.1:c.*4906C>T, NM_001377327.1:c.*4906C>T, NM_001377326.1:c.*4906C>T, XM_005252342.6:c.*4906C>T, XM_005252342.5:c.*4906C>T, XM_005252342.4:c.*4906C>T, XM_005252342.3:c.*4906C>T, XM_005252342.2:c.*4906C>T, XM_005252342.1:c.*4906C>T, XM_005252343.6:c.*4906C>T, XM_005252343.5:c.*4906C>T, XM_005252343.4:c.*4906C>T, XM_005252343.3:c.*4906C>T, XM_005252343.2:c.*4906C>T, XM_005252343.1:c.*4906C>T, XM_011519291.3:c.*4906C>T, XM_011519291.2:c.*4906C>T, XM_011519291.1:c.*4906C>T, XM_047424443.1:c.*4906C>T, XM_047424444.1:c.*4906C>T

Select item 148419343819.

rs1484193438 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:20781191 (GRCh38)
10:21070120 (GRCh37)
Canonical SPDI:: NC_000010.11:20781190:AA:A
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.20781192del, NC_000010.10:g.21070121del, NG_017092.1:g.397997del, NM_006393.3:c.*4556del, NM_006393.2:c.*4556del, NM_213569.2:c.*4556del, NM_001173484.2:c.*4692del, NM_001173484.1:c.*4692del, NM_001377324.1:c.*4556del, NM_001377322.1:c.*4556del, NM_001377323.1:c.*4556del, NM_001377325.1:c.*4556del, NM_001377328.1:c.*4556del, NM_001377327.1:c.*4556del, NM_001377326.1:c.*4556del, XM_005252342.6:c.*4556del, XM_005252342.5:c.*4556del, XM_005252342.4:c.*4556del, XM_005252342.3:c.*4556del, XM_005252342.2:c.*4556del, XM_005252342.1:c.*4556del, XM_005252343.6:c.*4556del, XM_005252343.5:c.*4556del, XM_005252343.4:c.*4556del, XM_005252343.3:c.*4556del, XM_005252343.2:c.*4556del, XM_005252343.1:c.*4556del, XM_011519291.3:c.*4556del, XM_011519291.2:c.*4556del, XM_011519291.1:c.*4556del, XM_047424443.1:c.*4556del, XM_047424444.1:c.*4556del

Select item 148406040920.

rs1484060409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:20783413 (GRCh38)
10:21072342 (GRCh37)
Canonical SPDI:: NC_000010.11:20783412:T:C
Gene:: NEBL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.20783413T>C, NC_000010.10:g.21072342T>C, NG_017092.1:g.395775A>G, NM_006393.3:c.*2334A>G, NM_006393.2:c.*2334A>G, NM_213569.2:c.*2334A>G, NM_001173484.2:c.*2470A>G, NM_001173484.1:c.*2470A>G, NM_001377324.1:c.*2334A>G, NM_001377322.1:c.*2334A>G, NM_001377323.1:c.*2334A>G, NM_001377325.1:c.*2334A>G, NM_001377328.1:c.*2334A>G, NM_001377327.1:c.*2334A>G, NM_001377326.1:c.*2334A>G, XM_005252342.6:c.*2334A>G, XM_005252342.5:c.*2334A>G, XM_005252342.4:c.*2334A>G, XM_005252342.3:c.*2334A>G, XM_005252342.2:c.*2334A>G, XM_005252342.1:c.*2334A>G, XM_005252343.6:c.*2334A>G, XM_005252343.5:c.*2334A>G, XM_005252343.4:c.*2334A>G, XM_005252343.3:c.*2334A>G, XM_005252343.2:c.*2334A>G, XM_005252343.1:c.*2334A>G, XM_011519291.3:c.*2334A>G, XM_011519291.2:c.*2334A>G, XM_011519291.1:c.*2334A>G, XM_047424443.1:c.*2334A>G, XM_047424444.1:c.*2334A>G

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