SNP Links for Gene (Select 4761) - SNP

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Items: 1 to 20 of 1753

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Select item 14915889731.

rs1491588973 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:39608089 (GRCh38)
17:37764342 (GRCh37)
Canonical SPDI:: NC_000017.11:39608088:AT:
Gene:: NEUROD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39608089_39608090del, NC_000017.10:g.37764342_37764343del

Select item 14914132202.

rs1491413220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:39608089 (GRCh38)
17:37764343 (GRCh37)
Canonical SPDI:: NC_000017.11:39608089:TT:TTT
Gene:: NEUROD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39608091dup, NC_000017.10:g.37764344dup

Select item 14909184323.

rs1490918432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39606798 (GRCh38)
17:37763051 (GRCh37)
Canonical SPDI:: NC_000017.11:39606797:G:C
Gene:: NEUROD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39606798G>C, NC_000017.10:g.37763051G>C

Select item 14908408734.

rs1490840873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:39607606 (GRCh38)
17:37763859 (GRCh37)
Canonical SPDI:: NC_000017.11:39607605:C:A,NC_000017.11:39607605:C:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39607606C>A, NC_000017.11:g.39607606C>T, NC_000017.10:g.37763859C>A, NC_000017.10:g.37763859C>T

Select item 14903593255.

rs1490359325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39607221 (GRCh38)
17:37763474 (GRCh37)
Canonical SPDI:: NC_000017.11:39607220:G:A
Gene:: NEUROD2 (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_000017.11:g.39607221G>A, NC_000017.10:g.37763474G>A

Select item 14895698156.

rs1489569815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39605522 (GRCh38)
17:37761775 (GRCh37)
Canonical SPDI:: NC_000017.11:39605521:A:G
Gene:: NEUROD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39605522A>G, NC_000017.10:g.37761775A>G, NM_006160.4:c.1078T>C, NM_006160.3:c.1078T>C, NP_006151.3:p.Ser360Pro

Select item 14892086987.

rs1489208698 has merged into rs961957035 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC [Show Flanks]
Chromosome:: 17:39607510 (GRCh38)
17:37763763 (GRCh37)
Canonical SPDI:: NC_000017.11:39607509:CCCCCCCC:CCCCCCC,NC_000017.11:39607509:CCCCCCCC:CCCCCCCCC,NC_000017.11:39607509:CCCCCCCC:CCCCCCCCCC
Gene:: NEUROD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.000049/13 (TOPMED)
-=0.002205/4 (Korea1K)
HGVS:: NC_000017.11:g.39607517del, NC_000017.11:g.39607517dup, NC_000017.11:g.39607516_39607517dup, NC_000017.10:g.37763770del, NC_000017.10:g.37763770dup, NC_000017.10:g.37763769_37763770dup

Select item 14889403238.

rs1488940323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39609318 (GRCh38)
17:37765571 (GRCh37)
Canonical SPDI:: NC_000017.11:39609317:C:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39609318C>T, NC_000017.10:g.37765571C>T

Select item 14887561629.

rs1488756162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39608046 (GRCh38)
17:37764299 (GRCh37)
Canonical SPDI:: NC_000017.11:39608045:C:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39608046C>T, NC_000017.10:g.37764299C>T

Select item 148862238810.

rs1488622388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39608300 (GRCh38)
17:37764553 (GRCh37)
Canonical SPDI:: NC_000017.11:39608299:C:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39608300C>T, NC_000017.10:g.37764553C>T

Select item 148779273211.

rs1487792732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39605117 (GRCh38)
17:37761370 (GRCh37)
Canonical SPDI:: NC_000017.11:39605116:G:A
Gene:: NEUROD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39605117G>A, NC_000017.10:g.37761370G>A, NM_006160.4:c.*334C>T, NM_006160.3:c.*334C>T

Select item 148748151812.

rs1487481518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39606155 (GRCh38)
17:37762408 (GRCh37)
Canonical SPDI:: NC_000017.11:39606154:G:A
Gene:: NEUROD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.39606155G>A, NC_000017.10:g.37762408G>A, NM_006160.4:c.445C>T, NM_006160.3:c.445C>T, NP_006151.3:p.Pro149Ser

Select item 148696273113.

rs1486962731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:39604850 (GRCh38)
17:37761103 (GRCh37)
Canonical SPDI:: NC_000017.11:39604849:T:A
Gene:: NEUROD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.39604850T>A, NC_000017.10:g.37761103T>A, NM_006160.4:c.*601A>T, NM_006160.3:c.*601A>T

Select item 148667770214.

rs1486677702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:39605786 (GRCh38)
17:37762039 (GRCh37)
Canonical SPDI:: NC_000017.11:39605785:C:A
Gene:: NEUROD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.39605786C>A, NC_000017.10:g.37762039C>A, NM_006160.4:c.814G>T, NM_006160.3:c.814G>T, NP_006151.3:p.Ala272Ser

Select item 148630035615.

rs1486300356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39606744 (GRCh38)
17:37762997 (GRCh37)
Canonical SPDI:: NC_000017.11:39606743:C:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: intron_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_000017.11:g.39606744C>T, NC_000017.10:g.37762997C>T

Select item 148565337516.

rs1485653375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39607476 (GRCh38)
17:37763729 (GRCh37)
Canonical SPDI:: NC_000017.11:39607475:C:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39607476C>T, NC_000017.10:g.37763729C>T

Select item 148546895117.

rs1485468951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39604794 (GRCh38)
17:37761047 (GRCh37)
Canonical SPDI:: NC_000017.11:39604793:T:C
Gene:: NEUROD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000039/5 (GnomAD)
HGVS:: NC_000017.11:g.39604794T>C, NC_000017.10:g.37761047T>C, NM_006160.4:c.*657A>G, NM_006160.3:c.*657A>G

Select item 148528109918.

rs1485281099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:39609102 (GRCh38)
17:37765355 (GRCh37)
Canonical SPDI:: NC_000017.11:39609101:A:C
Gene:: NEUROD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.39609102A>C, NC_000017.10:g.37765355A>C

Select item 148507805119.

rs1485078051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39606443 (GRCh38)
17:37762696 (GRCh37)
Canonical SPDI:: NC_000017.11:39606442:G:A
Gene:: NEUROD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.39606443G>A, NC_000017.10:g.37762696G>A, NM_006160.4:c.157C>T, NM_006160.3:c.157C>T, NP_006151.3:p.Arg53Trp

Select item 148500377920.

rs1485003779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:39607253 (GRCh38)
17:37763506 (GRCh37)
Canonical SPDI:: NC_000017.11:39607252:G:A,NC_000017.11:39607252:G:C,NC_000017.11:39607252:G:T
Gene:: NEUROD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00137/4 (KOREAN)
HGVS:: NC_000017.11:g.39607253G>A, NC_000017.11:g.39607253G>C, NC_000017.11:g.39607253G>T, NC_000017.10:g.37763506G>A, NC_000017.10:g.37763506G>C, NC_000017.10:g.37763506G>T

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