SNP Links for Gene (Select 25832) - SNP

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Select item 14913648741.

rs1491364874 has merged into rs1207826390 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:148580871 (GRCh38)
1:7 (GRCh37)
Canonical SPDI:: NC_000001.11:148580862:TTTTTTTTTT:TTTTTTTT,NC_000001.11:148580862:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:148580862:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:148580862:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.148580871_148580872del, NC_000001.11:g.148580872del, NC_000001.11:g.148580872dup, NC_000001.11:g.148580871_148580872dup, NW_003871055.3:g.5396284_5396285del, NW_003871055.3:g.5396285del, NW_003871055.3:g.5396285dup, NW_003871055.3:g.5396284_5396285dup

Select item 14912242812.

rs1491224281 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:148580863 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148580863::A
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02866/340 (ALFA)
A=0.00159/43 (TOMMO)
HGVS:: NC_000001.11:g.148580863_148580864insA, NW_003871055.3:g.5396276_5396277insA

Select item 14909914413.

rs1490991441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:148559969 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148559968:G:A,NC_000001.11:148559968:G:C
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
C=0.00016/1 (1000Genomes)
C=0.00094/26 (TOMMO)
HGVS:: NC_000001.11:g.148559969G>A, NC_000001.11:g.148559969G>C, NW_003871055.3:g.5375382G>A, NW_003871055.3:g.5375382G>C

Select item 14909664814.

rs1490966481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:148559728 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148559727:G:A,NC_000001.11:148559727:G:T
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.148559728G>A, NC_000001.11:g.148559728G>T, NW_003871055.3:g.5375141G>A, NW_003871055.3:g.5375141G>T

Select item 14908820155.

rs1490882015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:148600340 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148600339:G:A
Gene:: NOTCH2NLB (Varview)
Functional Consequence:: 3_prime_UTR_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.148600340G>A, NW_003871055.3:g.5415753G>A, NM_001364007.2:c.*6743C>T, NM_001364007.1:c.*6743C>T, NM_001364008.2:c.*6743C>T, NM_001364008.1:c.*6743C>T, XM_047420616.1:c.*6743C>T, NM_001395234.1:c.*6743C>T, XM_047420744.1:c.*6743C>T

Select item 14908819786.

rs1490881978 has merged into rs782170655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:148533226 (GRCh38)
1:148004769 (GRCh37)
Canonical SPDI:: NC_000001.11:148533225:C:A,NC_000001.11:148533225:C:T
Gene:: NBPF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000035/1 (TOMMO)
T=0.000072/8 (ExAC)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.148533226C>A, NC_000001.11:g.148533226C>T, NW_003871055.3:g.5348639C>A, NW_003871055.3:g.5348639C>T, NC_000001.10:g.148004769C>A, NC_000001.10:g.148004769C>T, NM_015383.2:c.8239G>T, NM_015383.2:c.8239G>A, NM_001395631.1:c.8746G>T, NM_001395631.1:c.8746G>A, NP_056198.2:p.Val2747Leu, NP_056198.2:p.Val2747Met, NP_001382560.1:p.Val2916Leu, NP_001382560.1:p.Val2916Met

Select item 14908434837.

rs1490843483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:148588363 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148588362:C:T
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.148588363C>T, NW_003871055.3:g.5403776C>T

Select item 14908139328.

rs1490813932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:148592964 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148592963:C:T
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.148592964C>T, NW_003871055.3:g.5408377C>T

Select item 14908125429.

rs1490812542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:148607618 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148607617:A:G,NC_000001.11:148607617:A:T
Gene:: NOTCH2NLB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.148607618A>G, NC_000001.11:g.148607618A>T, NW_003871055.3:g.5423031A>G, NW_003871055.3:g.5423031A>T, NM_001364007.2:c.543T>C, NM_001364007.2:c.543T>A, NM_001364007.1:c.543T>C, NM_001364007.1:c.543T>A, NM_001364008.2:c.465T>C, NM_001364008.2:c.465T>A, NM_001364008.1:c.465T>C, NM_001364008.1:c.465T>A, XM_047420642.1:c.426T>C, XM_047420642.1:c.426T>A, XM_047420616.1:c.546T>C, XM_047420616.1:c.546T>A, XM_047420688.1:c.426T>C, XM_047420688.1:c.426T>A, NM_001395234.1:c.621T>C, NM_001395234.1:c.621T>A, XM_047420744.1:c.471T>C, XM_047420744.1:c.471T>A, XM_047420702.1:c.426T>C, XM_047420702.1:c.426T>A, XM_047420672.1:c.426T>C, XM_047420672.1:c.426T>A, XM_047420582.1:c.621T>C, XM_047420582.1:c.621T>A, XM_047420756.1:c.546T>C, XM_047420756.1:c.546T>A, XM_047420606.1:c.471T>C, XM_047420606.1:c.471T>A, XM_047420717.1:c.426T>C, XM_047420717.1:c.426T>A

Select item 149079821910.

rs1490798219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:148585009 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148585008:G:A
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.148585009G>A, NW_003871055.3:g.5400422G>A

Select item 149079014211.

rs1490790142 has merged into rs1241465362 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG [Show Flanks]
Chromosome:: 1:148535067 (GRCh38)
1:10 (GRCh37)
Canonical SPDI:: NC_000001.11:148535055:GAGAGAGAGAGAGAG:GAGAGAGAGAG,NC_000001.11:148535055:GAGAGAGAGAGAGAG:GAGAGAGAGAGAG,NC_000001.11:148535055:GAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAG=0./0 (ALFA)
-=0.00765/14 (Korea1K)
HGVS:: NC_000001.11:g.148535057AG[5], NC_000001.11:g.148535057AG[6], NC_000001.11:g.148535057AG[8], NW_003871055.3:g.5350470AG[5], NW_003871055.3:g.5350470AG[6], NW_003871055.3:g.5350470AG[8]

Select item 149074228412.

rs1490742284 has merged into rs1266425385 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:148592451 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148592450:AAAAAAA:AAAAAA,NC_000001.11:148592450:AAAAAAA:AAAAAAAA
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.148592457del, NC_000001.11:g.148592457dup, NW_003871055.3:g.5407870del, NW_003871055.3:g.5407870dup

Select item 149073947413.

rs1490739474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:148535303 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148535302:C:T
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
T=0.000051/7 (GnomAD)
T=0.000072/19 (TOPMED)
T=0.000548/1 (Korea1K)
HGVS:: NC_000001.11:g.148535303C>T, NW_003871055.3:g.5350716C>T

Select item 149072506914.

rs1490725069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:148584422 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148584421:C:A
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.148584422C>A, NW_003871055.3:g.5399835C>A

Select item 149071292415.

rs1490712924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:148576077 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148576076:T:A,NC_000001.11:148576076:T:C,NC_000001.11:148576076:T:G
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000303/39 (GnomAD)
HGVS:: NC_000001.11:g.148576077T>A, NC_000001.11:g.148576077T>C, NC_000001.11:g.148576077T>G, NW_003871055.3:g.5391490T>A, NW_003871055.3:g.5391490T>C, NW_003871055.3:g.5391490T>G

Select item 149069972916.

rs1490699729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:148583806 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148583805:T:C
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00003/2 (GnomAD)
HGVS:: NC_000001.11:g.148583806T>C, NW_003871055.3:g.5399219T>C

Select item 149067753217.

rs1490677532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:148574461 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148574460:A:C,NC_000001.11:148574460:A:G
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00002/1 (GnomAD)
C=0.00004/1 (TOMMO)
C=0.00171/3 (Korea1K)
HGVS:: NC_000001.11:g.148574461A>C, NC_000001.11:g.148574461A>G, NW_003871055.3:g.5389874A>C, NW_003871055.3:g.5389874A>G

Select item 149067628918.

rs1490676289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:148578854 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148578853:T:C,NC_000001.11:148578853:T:G
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000032/4 (GnomAD)
C=0.002804/79 (TOMMO)
C=0.005482/10 (Korea1K)
HGVS:: NC_000001.11:g.148578854T>C, NC_000001.11:g.148578854T>G, NW_003871055.3:g.5394267T>C, NW_003871055.3:g.5394267T>G

Select item 149065021319.

rs1490650213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:148578367 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148578366:T:C
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.148578367T>C, NW_003871055.3:g.5393780T>C

Select item 149062245520.

rs1490622455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:148567590 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:148567589:G:A
Gene:: NBPF14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00014/2 (ALFA)
A=0.00055/3 (GnomAD)
A=0.00235/48 (TOMMO)
A=0.00859/11 (Korea1K)
HGVS:: NC_000001.11:g.148567590G>A, NW_003871055.3:g.5383003G>A

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