SNP Links for Nucleotide (Select 219689114) - SNP

Links from Nucleotide

Items: 1 to 20 of 1282

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Select item 14907390591.

rs1490739059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16707314 (GRCh38)
1:17033809 (GRCh37)
Canonical SPDI:: NC_000001.11:16707313:G:A
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16707314G>A, NC_000001.10:g.17033809G>A, NW_025791756.1:g.829330C>T, NR_026567.1:n.670C>T

Select item 14906994342.

rs1490699434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16691270 (GRCh38)
1:17017765 (GRCh37)
Canonical SPDI:: NC_000001.11:16691269:T:C
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_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.16691270T>C, NC_000001.10:g.17017765T>C, NW_025791756.1:g.845385A>G, NR_026567.1:n.1963A>G

Select item 14906016563.

rs1490601656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:16702844 (GRCh38)
1:17029339 (GRCh37)
Canonical SPDI:: NC_000001.11:16702843:G:A,NC_000001.11:16702843:G:C
Gene:: ESPNP (Varview), LOC124903858 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000036/1 (TOMMO)
A=0.000047/7 (GnomAD_exomes)
A=0.000143/17 (GnomAD)
HGVS:: NC_000001.11:g.16702844G>A, NC_000001.11:g.16702844G>C, NC_000001.10:g.17029339G>A, NC_000001.10:g.17029339G>C, NW_025791756.1:g.833806C>T, NW_025791756.1:g.833806C>G, NR_026567.1:n.1027C>T, NR_026567.1:n.1027C>G

Select item 14882343124.

rs1488234312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:16691266 (GRCh38)
1:17017761 (GRCh37)
Canonical SPDI:: NC_000001.11:16691265:A:C
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16691266A>C, NC_000001.10:g.17017761A>C, NW_025791756.1:g.845389T>G, NR_026567.1:n.1967T>G

Select item 14877148685.

rs1487714868 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGGCGCGCGCGTGCG>- [Show Flanks]
Chromosome:: 1:16707956 (GRCh38)
1:17034451 (GRCh37)
Canonical SPDI:: NC_000001.11:16707953:CGTGGGCGCGCGCGTGCG:CG
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16707956_16707971del, NC_000001.10:g.17034451_17034466del, NW_025791756.1:g.828675_828690del, NR_026567.1:n.304_319del

Select item 14858929996.

rs1485892999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16707986 (GRCh38)
1:17034481 (GRCh37)
Canonical SPDI:: NC_000001.11:16707985:T:C
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16707986T>C, NC_000001.10:g.17034481T>C, NW_025791756.1:g.828658A>G, NR_026567.1:n.287A>G

Select item 14857661987.

rs1485766198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:16691229 (GRCh38)
1:17017724 (GRCh37)
Canonical SPDI:: NC_000001.11:16691228:C:G
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.16691229C>G, NC_000001.10:g.17017724C>G, NW_025791756.1:g.845426G>C, NR_026567.1:n.2004G>C

Select item 14842108228.

rs1484210822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:16699924 (GRCh38)
1:17026419 (GRCh37)
Canonical SPDI:: NC_000001.11:16699923:G:A,NC_000001.11:16699923:G:T
Gene:: ESPNP (Varview), LOC124903858 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.16699924G>A, NC_000001.11:g.16699924G>T, NC_000001.10:g.17026419G>A, NC_000001.10:g.17026419G>T, NW_025791756.1:g.836763C>T, NW_025791756.1:g.836763C>A, NR_026567.1:n.1267C>T, NR_026567.1:n.1267C>A

Select item 14835004049.

rs1483500404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:16720103 (GRCh38)
1:17046598 (GRCh37)
Canonical SPDI:: NC_000001.11:16720102:G:A,NC_000001.11:16720102:G:C,NC_000001.11:16720102:G:T
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.16720103G>A, NC_000001.11:g.16720103G>C, NC_000001.11:g.16720103G>T, NC_000001.10:g.17046598G>A, NC_000001.10:g.17046598G>C, NC_000001.10:g.17046598G>T, NW_025791756.1:g.816536C>T, NW_025791756.1:g.816536C>G, NW_025791756.1:g.816536C>A, NR_026567.1:n.55C>T, NR_026567.1:n.55C>G, NR_026567.1:n.55C>A

Select item 148201939910.

rs1482019399 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG,GAG,TAG [Show Flanks]
Chromosome:: 1:16699550 (GRCh38)
1:17026046 (GRCh37)
Canonical SPDI:: NC_000001.11:16699550:AG:AGAAG,NC_000001.11:16699550:AG:AGGAG,NC_000001.11:16699550:AG:AGTAG
Gene:: ESPNP (Varview), LOC124903858 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.16699552_16699553insAAG, NC_000001.11:g.16699552_16699553insGAG, NC_000001.11:g.16699552_16699553insTAG, NC_000001.10:g.17026047_17026048insAAG, NC_000001.10:g.17026047_17026048insGAG, NC_000001.10:g.17026047_17026048insTAG, NW_025791756.1:g.837136_837137insTCT, NW_025791756.1:g.837136_837137insCCT, NW_025791756.1:g.837136_837137insACT, NR_026567.1:n.1403_1404insTCT, NR_026567.1:n.1403_1404insCCT, NR_026567.1:n.1403_1404insACT

Select item 148194627711.

rs1481946277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16696583 (GRCh38)
1:17023078 (GRCh37)
Canonical SPDI:: NC_000001.11:16696582:G:A
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16696583G>A, NC_000001.10:g.17023078G>A, NW_025791756.1:g.840106C>T, NR_026567.1:n.1786C>T

Select item 148174064612.

rs1481740646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:16702878 (GRCh38)
1:17029373 (GRCh37)
Canonical SPDI:: NC_000001.11:16702877:T:C,NC_000001.11:16702877:T:G
Gene:: ESPNP (Varview), LOC124903858 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000047/6 (GnomAD)
G=0.000358/6 (TOMMO)
HGVS:: NC_000001.11:g.16702878T>C, NC_000001.11:g.16702878T>G, NC_000001.10:g.17029373T>C, NC_000001.10:g.17029373T>G, NW_025791756.1:g.833772A>G, NW_025791756.1:g.833772A>C, NR_026567.1:n.993A>G, NR_026567.1:n.993A>C

Select item 148140908113.

rs1481409081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:16699552 (GRCh38)
1:17026047 (GRCh37)
Canonical SPDI:: NC_000001.11:16699551:G:C
Gene:: ESPNP (Varview), LOC124903858 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.16699552G>C, NC_000001.10:g.17026047G>C, NW_025791756.1:g.837135C>G, NR_026567.1:n.1402C>G

Select item 148036393614.

rs1480363936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:16696914 (GRCh38)
1:17023409 (GRCh37)
Canonical SPDI:: NC_000001.11:16696913:A:G,NC_000001.11:16696913:A:T
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16696914A>G, NC_000001.11:g.16696914A>T, NC_000001.10:g.17023409A>G, NC_000001.10:g.17023409A>T, NW_025791756.1:g.839775T>C, NW_025791756.1:g.839775T>A, NR_026567.1:n.1539T>C, NR_026567.1:n.1539T>A

Select item 148004031615.

rs1480040316 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:16696555 (GRCh38)
1:17023050 (GRCh37)
Canonical SPDI:: NC_000001.11:16696554:A:C
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.16696555A>C, NC_000001.10:g.17023050A>C, NW_025791756.1:g.840134T>G, NR_026567.1:n.1814T>G

Select item 147910293716.

rs1479102937 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:16707966 (GRCh38)
1:17034461 (GRCh37)
Canonical SPDI:: NC_000001.11:16707958:GCGCGCGCG:GCGCGCG
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16707960CG[3], NC_000001.10:g.17034455CG[3], NW_025791756.1:g.828678GC[3], NR_026567.1:n.307GC[3]

Select item 147789935217.

rs1477899352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16707587 (GRCh38)
1:17034082 (GRCh37)
Canonical SPDI:: NC_000001.11:16707586:G:A
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16707587G>A, NC_000001.10:g.17034082G>A, NW_025791756.1:g.829057C>T, NR_026567.1:n.522C>T

Select item 147466770318.

rs1474667703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:16699517 (GRCh38)
1:17026012 (GRCh37)
Canonical SPDI:: NC_000001.11:16699516:C:T
Gene:: ESPNP (Varview), LOC124903858 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16699517C>T, NC_000001.10:g.17026012C>T, NW_025791756.1:g.837170G>A, NR_026567.1:n.1437G>A

Select item 147444285019.

rs1474442850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16696586 (GRCh38)
1:17023081 (GRCh37)
Canonical SPDI:: NC_000001.11:16696585:G:A
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.16696586G>A, NC_000001.10:g.17023081G>A, NW_025791756.1:g.840103C>T, NR_026567.1:n.1783C>T

Select item 147434058720.

rs1474340587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:16696901 (GRCh38)
1:17023396 (GRCh37)
Canonical SPDI:: NC_000001.11:16696900:A:G
Gene:: ESPNP (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.16696901A>G, NC_000001.10:g.17023396A>G, NW_025791756.1:g.839788T>C, NR_026567.1:n.1552T>C

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