SNP Links for Gene (Select 608) - SNP

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Select item 14914963631.

rs1491496363 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:11964439 (GRCh38)
16:12058296 (GRCh37)
Canonical SPDI:: NC_000016.10:11964436:AGAG:AG
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.001708/24 (ALFA)
-=0.00091/241 (TOPMED)
-=0.000973/136 (GnomAD)
-=0.001557/6 (ALSPAC)
-=0.001888/7 (TWINSUK)
HGVS:: NC_000016.10:g.11964437AG[1], NC_000016.9:g.12058294AG[1]

Select item 14881644552.

rs1488164455 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:11968083 (GRCh38)
16:12061940 (GRCh37)
Canonical SPDI:: NC_000016.10:11968082:TT:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.11968084del, NC_000016.9:g.12061941del

Select item 14877639873.

rs1487763987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:11968010 (GRCh38)
16:12061867 (GRCh37)
Canonical SPDI:: NC_000016.10:11968009:T:C
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.11968010T>C, NC_000016.9:g.12061867T>C, NM_001192.3:c.*163T>C, NM_001192.2:c.*163T>C

Select item 14873687654.

rs1487368765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11964463 (GRCh38)
16:12058320 (GRCh37)
Canonical SPDI:: NC_000016.10:11964462:G:A
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11964463G>A, NC_000016.9:g.12058320G>A

Select item 14869041535.

rs1486904153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:11965636 (GRCh38)
16:12059493 (GRCh37)
Canonical SPDI:: NC_000016.10:11965635:G:C,NC_000016.10:11965635:G:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.11965636G>C, NC_000016.10:g.11965636G>T, NC_000016.9:g.12059493G>C, NC_000016.9:g.12059493G>T

Select item 14868539776.

rs1486853977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:11966405 (GRCh38)
16:12060262 (GRCh37)
Canonical SPDI:: NC_000016.10:11966404:C:A
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,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_000016.10:g.11966405C>A, NC_000016.9:g.12060262C>A

Select item 14864206117.

rs1486420611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:11965495 (GRCh38)
16:12059352 (GRCh37)
Canonical SPDI:: NC_000016.10:11965494:T:A
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11965495T>A, NC_000016.9:g.12059352T>A

Select item 14860954128.

rs1486095412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:11966350 (GRCh38)
16:12060207 (GRCh37)
Canonical SPDI:: NC_000016.10:11966349:G:C
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11966350G>C, NC_000016.9:g.12060207G>C

Select item 14859078969.

rs1485907896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:11966197 (GRCh38)
16:12060054 (GRCh37)
Canonical SPDI:: NC_000016.10:11966196:G:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11966197G>T, NC_000016.9:g.12060054G>T, NM_001192.3:c.133G>T, NM_001192.2:c.133G>T, NP_001183.2:p.Val45Leu

Select item 148544160810.

rs1485441608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11968072 (GRCh38)
16:12061929 (GRCh37)
Canonical SPDI:: NC_000016.10:11968071:C:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.11968072C>T, NC_000016.9:g.12061929C>T

Select item 148446204511.

rs1484462045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:11967616 (GRCh38)
16:12061473 (GRCh37)
Canonical SPDI:: NC_000016.10:11967615:G:A,NC_000016.10:11967615:G:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.11967616G>A, NC_000016.10:g.11967616G>T, NC_000016.9:g.12061473G>A, NC_000016.9:g.12061473G>T, NM_001192.3:c.324G>A, NM_001192.3:c.324G>T, NM_001192.2:c.324G>A, NM_001192.2:c.324G>T, NP_001183.2:p.Arg108Ser

Select item 148394668512.

rs1483946685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11964385 (GRCh38)
16:12058242 (GRCh37)
Canonical SPDI:: NC_000016.10:11964384:C:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.11964385C>T, NC_000016.9:g.12058242C>T, NM_001355514.1:c.-577G>A

Select item 148392993313.

rs1483929933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:11967681 (GRCh38)
16:12061538 (GRCh37)
Canonical SPDI:: NC_000016.10:11967680:A:C
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11967681A>C, NC_000016.9:g.12061538A>C, NM_001192.3:c.389A>C, NM_001192.2:c.389A>C, NP_001183.2:p.Asp130Ala

Select item 148190792914.

rs1481907929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:11964588 (GRCh38)
16:12058445 (GRCh37)
Canonical SPDI:: NC_000016.10:11964587:T:C
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.11964588T>C, NC_000016.9:g.12058445T>C

Select item 148175237315.

rs1481752373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:11966162 (GRCh38)
16:12060019 (GRCh37)
Canonical SPDI:: NC_000016.10:11966161:G:C
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.11966162G>C, NC_000016.9:g.12060019G>C

Select item 148147307116.

rs1481473071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:11965244 (GRCh38)
16:12059101 (GRCh37)
Canonical SPDI:: NC_000016.10:11965243:T:A
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,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_000016.10:g.11965244T>A, NC_000016.9:g.12059101T>A, NM_001192.3:c.-81T>A, NM_001192.2:c.-81T>A

Select item 148129159317.

rs1481291593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11968453 (GRCh38)
16:12062310 (GRCh37)
Canonical SPDI:: NC_000016.10:11968452:G:A
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.11968453G>A, NC_000016.9:g.12062310G>A, NG_044167.1:g.391C>T

Select item 148089001518.

rs1480890015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:11968414 (GRCh38)
16:12062271 (GRCh37)
Canonical SPDI:: NC_000016.10:11968413:T:G
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (GnomAD)
G=0.003275/6 (Korea1K)
HGVS:: NC_000016.10:g.11968414T>G, NC_000016.9:g.12062271T>G, NG_044167.1:g.430A>C

Select item 147989594219.

rs1479895942 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAA>- [Show Flanks]
Chromosome:: 16:11967824 (GRCh38)
16:12061681 (GRCh37)
Canonical SPDI:: NC_000016.10:11967822:AGAGAA:A
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11967824_11967828del, NC_000016.9:g.12061681_12061685del, NM_001192.3:c.532_536del, NM_001192.2:c.532_536del, NP_001183.2:p.Glu178fs

Select item 147845524320.

rs1478455243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:11966401 (GRCh38)
16:12060258 (GRCh37)
Canonical SPDI:: NC_000016.10:11966400:G:A,NC_000016.10:11966400:G:T
Gene:: TNFRSF17 (Varview), NPIPB2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.11966401G>A, NC_000016.10:g.11966401G>T, NC_000016.9:g.12060258G>A, NC_000016.9:g.12060258G>T

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