SNP Links for Gene (Select 100313769) - SNP

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Links from Gene

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Select item 14888440341.

rs1488844034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:224258708 (GRCh38)
1:224446410 (GRCh37)
Canonical SPDI:: NC_000001.11:224258707:A:C,NC_000001.11:224258707:A:T
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00007/1 (ALFA)
C=0.00022/1 (Estonian)
HGVS:: NC_000001.11:g.224258708A>C, NC_000001.11:g.224258708A>T, NC_000001.10:g.224446410A>C, NC_000001.10:g.224446410A>T, NG_029641.1:g.76482T>G, NG_029641.1:g.76482T>A

Select item 14872315142.

rs1487231514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224257286 (GRCh38)
1:224444988 (GRCh37)
Canonical SPDI:: NC_000001.11:224257285:C:T
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224257286C>T, NC_000001.10:g.224444988C>T, NG_029641.1:g.77904G>A

Select item 14870067143.

rs1487006714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:224258461 (GRCh38)
1:224446163 (GRCh37)
Canonical SPDI:: NC_000001.11:224258460:T:A
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224258461T>A, NC_000001.10:g.224446163T>A, NG_029641.1:g.76729A>T

Select item 14825650464.

rs1482565046 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 1:224257100 (GRCh38)
1:224444803 (GRCh37)
Canonical SPDI:: NC_000001.11:224257100:C:CTC
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: CT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224257101_224257102insTC, NC_000001.10:g.224444803_224444804insTC, NG_029641.1:g.78089_78090insAG, NG_076582.1:g.455_456insTC, NR_031574.2:n.10_11insAG, NR_031574.1:n.41_42insAG

Select item 14823275575.

rs1482327557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:224258829 (GRCh38)
1:224446531 (GRCh37)
Canonical SPDI:: NC_000001.11:224258828:A:C
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.224258829A>C, NC_000001.10:g.224446531A>C, NG_029641.1:g.76361T>G

Select item 14790142366.

rs1479014236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:224258790 (GRCh38)
1:224446492 (GRCh37)
Canonical SPDI:: NC_000001.11:224258789:C:A
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000001.11:g.224258790C>A, NC_000001.10:g.224446492C>A, NG_029641.1:g.76400G>T

Select item 14783578937.

rs1478357893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:224256888 (GRCh38)
1:224444590 (GRCh37)
Canonical SPDI:: NC_000001.11:224256887:A:C
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.224256888A>C, NC_000001.10:g.224444590A>C, NG_029641.1:g.78302T>G, NG_076582.1:g.242A>C

Select item 14782836908.

rs1478283690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224258573 (GRCh38)
1:224446275 (GRCh37)
Canonical SPDI:: NC_000001.11:224258572:T:C
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.224258573T>C, NC_000001.10:g.224446275T>C, NG_029641.1:g.76617A>G

Select item 14771223299.

rs1477122329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224258966 (GRCh38)
1:224446668 (GRCh37)
Canonical SPDI:: NC_000001.11:224258965:C:T
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
T=0.000064/8 (GnomAD)
HGVS:: NC_000001.11:g.224258966C>T, NC_000001.10:g.224446668C>T, NG_029641.1:g.76224G>A

Select item 147576776510.

rs1475767765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224259038 (GRCh38)
1:224446740 (GRCh37)
Canonical SPDI:: NC_000001.11:224259037:T:C
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.224259038T>C, NC_000001.10:g.224446740T>C, NG_029641.1:g.76152A>G

Select item 147264205211.

rs1472642052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224258444 (GRCh38)
1:224446146 (GRCh37)
Canonical SPDI:: NC_000001.11:224258443:T:C
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000001.11:g.224258444T>C, NC_000001.10:g.224446146T>C, NG_029641.1:g.76746A>G

Select item 147137597112.

rs1471375971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224258912 (GRCh38)
1:224446614 (GRCh37)
Canonical SPDI:: NC_000001.11:224258911:G:A
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.224258912G>A, NC_000001.10:g.224446614G>A, NG_029641.1:g.76278C>T

Select item 146920722013.

rs1469207220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:224258695 (GRCh38)
1:224446397 (GRCh37)
Canonical SPDI:: NC_000001.11:224258694:A:T
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.224258695A>T, NC_000001.10:g.224446397A>T, NG_029641.1:g.76495T>A

Select item 146613800814.

rs1466138008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224257643 (GRCh38)
1:224445345 (GRCh37)
Canonical SPDI:: NC_000001.11:224257642:A:G
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.224257643A>G, NC_000001.10:g.224445345A>G, NG_029641.1:g.77547T>C

Select item 146580628715.

rs1465806287 [Homo sapiens]

Variant type:: DEL
Alleles:: GCCC>- [Show Flanks]
Chromosome:: 1:224257051 (GRCh38)
1:224444753 (GRCh37)
Canonical SPDI:: NC_000001.11:224257050:GCCC:
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.224257051_224257054del, NC_000001.10:g.224444753_224444756del, NG_029641.1:g.78136_78139del, NG_076582.1:g.405_408del, NR_031574.2:n.57_60del, NR_031574.1:n.88_91del

Select item 146550076116.

rs1465500761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224259024 (GRCh38)
1:224446726 (GRCh37)
Canonical SPDI:: NC_000001.11:224259023:C:T
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.224259024C>T, NC_000001.10:g.224446726C>T, NG_029641.1:g.76166G>A

Select item 146390672917.

rs1463906729 has merged into rs774331521 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>-,TTGTTTGT [Show Flanks]
Chromosome:: 1:224257512 (GRCh38)
1:224445214 (GRCh37)
Canonical SPDI:: NC_000001.11:224257506:TTTGTTTGT:TTTGT,NC_000001.11:224257506:TTTGTTTGT:TTTGTTTGTTTGT
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTTGTTTGT=0./0 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000001.11:g.224257508TTGT[1], NC_000001.11:g.224257508TTGT[3], NC_000001.10:g.224445210TTGT[1], NC_000001.10:g.224445210TTGT[3], NG_029641.1:g.77676CAAA[1], NG_029641.1:g.77676CAAA[3]

Select item 146356664318.

rs1463566643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:224256859 (GRCh38)
1:224444561 (GRCh37)
Canonical SPDI:: NC_000001.11:224256858:T:A
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.224256859T>A, NC_000001.10:g.224444561T>A, NG_029641.1:g.78331A>T, NG_076582.1:g.213T>A

Select item 145935055419.

rs1459350554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224258811 (GRCh38)
1:224446513 (GRCh37)
Canonical SPDI:: NC_000001.11:224258810:T:C
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.224258811T>C, NC_000001.10:g.224446513T>C, NG_029641.1:g.76379A>G

Select item 145839174420.

rs1458391744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:224257016 (GRCh38)
1:224444718 (GRCh37)
Canonical SPDI:: NC_000001.11:224257015:T:A
Gene:: NVL (Varview), MIR320B2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224257016T>A, NC_000001.10:g.224444718T>A, NG_029641.1:g.78174A>T, NG_076582.1:g.370T>A, NR_031574.1:n.126A>T