SNP Links for Nucleotide (Select 297632382) - SNP

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Links from Nucleotide

Items: 1 to 20 of 228

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Select item 14876592211.

rs1487659221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:183321940 (GRCh38)
4:184243093 (GRCh37)
Canonical SPDI:: NC_000004.12:183321939:C:G,NC_000004.12:183321939:C:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.183321940C>G, NC_000004.12:g.183321940C>T, NC_000004.11:g.184243093C>G, NC_000004.11:g.184243093C>T, NG_051586.1:g.228306C>G, NG_051586.1:g.228306C>T, NM_001185149.1:c.487G>C, NM_001185149.1:c.487G>A, NP_001172078.1:p.Gly163Arg, NP_001172078.1:p.Gly163Arg

Select item 14785254602.

rs1478525460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:183321768 (GRCh38)
4:184242921 (GRCh37)
Canonical SPDI:: NC_000004.12:183321767:A:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183321768A>T, NC_000004.11:g.184242921A>T, NG_051586.1:g.228134A>T, NM_001185149.1:c.659T>A, NP_001172078.1:p.Val220Glu

Select item 14766036043.

rs1476603604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:183321901 (GRCh38)
4:184243054 (GRCh37)
Canonical SPDI:: NC_000004.12:183321900:G:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.183321901G>T, NC_000004.11:g.184243054G>T, NG_051586.1:g.228267G>T, NM_001185149.1:c.526C>A, NP_001172078.1:p.Leu176Ile

Select item 14692387594.

rs1469238759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183321917 (GRCh38)
4:184243070 (GRCh37)
Canonical SPDI:: NC_000004.12:183321916:C:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.183321917C>T, NC_000004.11:g.184243070C>T, NG_051586.1:g.228283C>T, NM_001185149.1:c.510G>A, NP_001172078.1:p.Trp170Ter

Select item 14607910135.

rs1460791013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:183322202 (GRCh38)
4:184243355 (GRCh37)
Canonical SPDI:: NC_000004.12:183322201:A:G
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_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_000004.12:g.183322202A>G, NC_000004.11:g.184243355A>G, NG_051586.1:g.228568A>G, NM_001185149.1:c.225T>C

Select item 14596194406.

rs1459619440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183322161 (GRCh38)
4:184243314 (GRCh37)
Canonical SPDI:: NC_000004.12:183322160:C:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183322161C>T, NC_000004.11:g.184243314C>T, NG_051586.1:g.228527C>T, NM_001185149.1:c.266G>A, NP_001172078.1:p.Gly89Glu

Select item 14575272507.

rs1457527250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:183321933 (GRCh38)
4:184243086 (GRCh37)
Canonical SPDI:: NC_000004.12:183321932:G:A,NC_000004.12:183321932:G:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183321933G>A, NC_000004.12:g.183321933G>T, NC_000004.11:g.184243086G>A, NC_000004.11:g.184243086G>T, NG_051586.1:g.228299G>A, NG_051586.1:g.228299G>T, NM_001185149.1:c.494C>T, NM_001185149.1:c.494C>A, NP_001172078.1:p.Ala165Val, NP_001172078.1:p.Ala165Asp

Select item 14524398928.

rs1452439892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:183321827 (GRCh38)
4:184242980 (GRCh37)
Canonical SPDI:: NC_000004.12:183321826:T:C
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183321827T>C, NC_000004.11:g.184242980T>C, NG_051586.1:g.228193T>C, NM_001185149.1:c.600A>G

Select item 14518459599.

rs1451845959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183321785 (GRCh38)
4:184242938 (GRCh37)
Canonical SPDI:: NC_000004.12:183321784:C:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183321785C>T, NC_000004.11:g.184242938C>T, NG_051586.1:g.228151C>T, NM_001185149.1:c.642G>A

Select item 144755187010.

rs1447551870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:183322052 (GRCh38)
4:184243205 (GRCh37)
Canonical SPDI:: NC_000004.12:183322051:C:A
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183322052C>A, NC_000004.11:g.184243205C>A, NG_051586.1:g.228418C>A, NM_001185149.1:c.375G>T

Select item 144718003911.

rs1447180039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183321829 (GRCh38)
4:184242982 (GRCh37)
Canonical SPDI:: NC_000004.12:183321828:C:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.183321829C>T, NC_000004.11:g.184242982C>T, NG_051586.1:g.228195C>T, NM_001185149.1:c.598G>A, NP_001172078.1:p.Ala200Thr

Select item 144586073712.

rs1445860737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:183321883 (GRCh38)
4:184243036 (GRCh37)
Canonical SPDI:: NC_000004.12:183321882:G:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183321883G>T, NC_000004.11:g.184243036G>T, NG_051586.1:g.228249G>T, NM_001185149.1:c.544C>A, NP_001172078.1:p.Leu182Met

Select item 144505334113.

rs1445053341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:183322153 (GRCh38)
4:184243306 (GRCh37)
Canonical SPDI:: NC_000004.12:183322152:A:G
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.183322153A>G, NC_000004.11:g.184243306A>G, NG_051586.1:g.228519A>G, NM_001185149.1:c.274T>C, NP_001172078.1:p.Phe92Leu

Select item 143554799214.

rs1435547992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183321871 (GRCh38)
4:184243024 (GRCh37)
Canonical SPDI:: NC_000004.12:183321870:C:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000017/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000004.12:g.183321871C>T, NC_000004.11:g.184243024C>T, NG_051586.1:g.228237C>T, NM_001185149.1:c.556G>A, NP_001172078.1:p.Ala186Thr

Select item 143398084515.

rs1433980845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:183322401 (GRCh38)
4:184243554 (GRCh37)
Canonical SPDI:: NC_000004.12:183322400:A:G
Gene:: CLDN24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183322401A>G, NC_000004.11:g.184243554A>G, NG_051586.1:g.228767A>G, NM_001185149.1:c.26T>C, NP_001172078.1:p.Met9Thr

Select item 143335572816.

rs1433355728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:183322167 (GRCh38)
4:184243320 (GRCh37)
Canonical SPDI:: NC_000004.12:183322166:G:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183322167G>T, NC_000004.11:g.184243320G>T, NG_051586.1:g.228533G>T, NM_001185149.1:c.260C>A, NP_001172078.1:p.Ser87Ter

Select item 143110739117.

rs1431107391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:183322398 (GRCh38)
4:184243551 (GRCh37)
Canonical SPDI:: NC_000004.12:183322397:T:G
Gene:: CLDN24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183322398T>G, NC_000004.11:g.184243551T>G, NG_051586.1:g.228764T>G, NM_001185149.1:c.29A>C, NP_001172078.1:p.Gln10Pro

Select item 142971325218.

rs1429713252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:183321802 (GRCh38)
4:184242955 (GRCh37)
Canonical SPDI:: NC_000004.12:183321801:G:T
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.183321802G>T, NC_000004.11:g.184242955G>T, NG_051586.1:g.228168G>T, NM_001185149.1:c.625C>A, NP_001172078.1:p.Pro209Thr

Select item 142390310319.

rs1423903103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:183322207 (GRCh38)
4:184243360 (GRCh37)
Canonical SPDI:: NC_000004.12:183322206:G:A
Gene:: CLDN22 (Varview), CLDN24 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.183322207G>A, NC_000004.11:g.184243360G>A, NG_051586.1:g.228573G>A, NM_001185149.1:c.220C>T, NP_001172078.1:p.Pro74Ser

Select item 142035271620.

rs1420352716 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 4:183322352 (GRCh38)
4:184243505 (GRCh37)
Canonical SPDI:: NC_000004.12:183322347:TAATAAT:TAAT
Gene:: CLDN24 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: TAAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.183322349AAT[1], NC_000004.11:g.184243502AAT[1], NG_051586.1:g.228715AAT[1], NM_001185149.1:c.74TTA[1], NP_001172078.1:p.Ile26del