SNP Links for Gene (Select 58158) - SNP

Links from Gene

Items: 1 to 20 of 2713

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Select item 14908105381.

rs1490810538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55029349 (GRCh38)
12:55423133 (GRCh37)
Canonical SPDI:: NC_000012.12:55029348:T:C
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.55029349T>C, NC_000012.11:g.55423133T>C, NM_021191.3:c.*1914T>C, NM_021191.2:c.*1914T>C

Select item 14906242662.

rs1490624266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55021211 (GRCh38)
12:55414995 (GRCh37)
Canonical SPDI:: NC_000012.12:55021210:A:G
Gene:: NEUROD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55021211A>G, NC_000012.11:g.55414995A>G

Select item 14906132003.

rs1490613200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55022507 (GRCh38)
12:55416291 (GRCh37)
Canonical SPDI:: NC_000012.12:55022506:C:T
Gene:: NEUROD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.55022507C>T, NC_000012.11:g.55416291C>T

Select item 14902963034.

rs1490296303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:55022140 (GRCh38)
12:55415924 (GRCh37)
Canonical SPDI:: NC_000012.12:55022139:T:A
Gene:: NEUROD4 (Varview)
Functional Consequence:: intron_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_000012.12:g.55022140T>A, NC_000012.11:g.55415924T>A

Select item 14898054445.

rs1489805444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:55021670 (GRCh38)
12:55415454 (GRCh37)
Canonical SPDI:: NC_000012.12:55021669:A:C
Gene:: NEUROD4 (Varview)
Functional Consequence:: 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_000012.12:g.55021670A>C, NC_000012.11:g.55415454A>C

Select item 14897268296.

rs1489726829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55018745 (GRCh38)
12:55412529 (GRCh37)
Canonical SPDI:: NC_000012.12:55018744:T:C
Gene:: NEUROD4 (Varview)
Functional Consequence:: 2KB_upstream_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_000012.12:g.55018745T>C, NC_000012.11:g.55412529T>C

Select item 14895291847.

rs1489529184 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:55019771 (GRCh38)
12:55413555 (GRCh37)
Canonical SPDI:: NC_000012.12:55019770:T:
Gene:: NEUROD4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55019771del, NC_000012.11:g.55413555del

Select item 14891866678.

rs1489186667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:55026452 (GRCh38)
12:55420236 (GRCh37)
Canonical SPDI:: NC_000012.12:55026451:T:G
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55026452T>G, NC_000012.11:g.55420236T>G, NM_021191.3:c.13T>G, NM_021191.2:c.13T>G, NP_067014.2:p.Phe5Val

Select item 14891375889.

rs1489137588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55026260 (GRCh38)
12:55420044 (GRCh37)
Canonical SPDI:: NC_000012.12:55026259:T:C
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.55026260T>C, NC_000012.11:g.55420044T>C

Select item 148901487310.

rs1489014873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55018353 (GRCh38)
12:55412137 (GRCh37)
Canonical SPDI:: NC_000012.12:55018352:T:C
Gene:: NEUROD4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55018353T>C, NC_000012.11:g.55412137T>C

Select item 148890138611.

rs1488901386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:55027757 (GRCh38)
12:55421541 (GRCh37)
Canonical SPDI:: NC_000012.12:55027756:C:A
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.55027757C>A, NC_000012.11:g.55421541C>A, NM_021191.3:c.*322C>A, NM_021191.2:c.*322C>A

Select item 148885834212.

rs1488858342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55023421 (GRCh38)
12:55417205 (GRCh37)
Canonical SPDI:: NC_000012.12:55023420:G:A
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000012.12:g.55023421G>A, NC_000012.11:g.55417205G>A

Select item 148823480313.

rs1488234803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:55028741 (GRCh38)
12:55422525 (GRCh37)
Canonical SPDI:: NC_000012.12:55028740:T:G
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.55028741T>G, NC_000012.11:g.55422525T>G, NM_021191.3:c.*1306T>G, NM_021191.2:c.*1306T>G

Select item 148822084814.

rs1488220848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:55022469 (GRCh38)
12:55416253 (GRCh37)
Canonical SPDI:: NC_000012.12:55022468:A:C
Gene:: NEUROD4 (Varview)
Functional Consequence:: 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_000012.12:g.55022469A>C, NC_000012.11:g.55416253A>C

Select item 148684125915.

rs1486841259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:55029965 (GRCh38)
12:55423749 (GRCh37)
Canonical SPDI:: NC_000012.12:55029964:A:C,NC_000012.12:55029964:A:T
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.55029965A>C, NC_000012.12:g.55029965A>T, NC_000012.11:g.55423749A>C, NC_000012.11:g.55423749A>T, NM_021191.3:c.*2530A>C, NM_021191.3:c.*2530A>T, NM_021191.2:c.*2530A>C, NM_021191.2:c.*2530A>T

Select item 148606390916.

rs1486063909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:55020933 (GRCh38)
12:55414718 (GRCh37)
Canonical SPDI:: NC_000012.12:55020933:TTTTT:TTTTTT
Gene:: NEUROD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0.000071/1 (ALFA)
T=0.000128/18 (GnomAD)
T=0.000298/79 (TOPMED)
HGVS:: NC_000012.12:g.55020938dup, NC_000012.11:g.55414722dup

Select item 148588542817.

rs1485885428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:55023854 (GRCh38)
12:55417638 (GRCh37)
Canonical SPDI:: NC_000012.12:55023853:C:G
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.55023854C>G, NC_000012.11:g.55417638C>G, XR_245987.4:n.999G>C, XR_245987.3:n.983G>C, XR_245987.2:n.678G>C, XR_245987.1:n.658G>C, XR_944985.1:n.978G>C, XR_944986.1:n.860G>C

Select item 148567551318.

rs1485675513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:55030510 (GRCh38)
12:55424294 (GRCh37)
Canonical SPDI:: NC_000012.12:55030509:T:A
Gene:: NEUROD4 (Varview), LOC101927484 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.55030510T>A, NC_000012.11:g.55424294T>A

Select item 148546787819.

rs1485467878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55018973 (GRCh38)
12:55412757 (GRCh37)
Canonical SPDI:: NC_000012.12:55018972:A:G
Gene:: NEUROD4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.55018973A>G, NC_000012.11:g.55412757A>G

Select item 148543776320.

rs1485437763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55018861 (GRCh38)
12:55412645 (GRCh37)
Canonical SPDI:: NC_000012.12:55018860:T:C
Gene:: NEUROD4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55018861T>C, NC_000012.11:g.55412645T>C

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