Links from Nucleotide
Items: 1 to 20 of 23134
2.
rs1491531203 has merged into rs72086157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 5:157526169
(GRCh38)
5:156953177
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157526159:ATATATATATATATA:ATATATATA,NC_000005.10:157526159:ATATATATATATATA:ATATATATATA,NC_000005.10:157526159:ATATATATATATATA:ATATATATATATA,NC_000005.10:157526159:ATATATATATATATA:ATATATATATATATATA,NC_000005.10:157526159:ATATATATATATATA:ATATATATATATATATATA
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
-=0.22333/134
(NorthernSweden)
- HGVS:
NC_000005.10:g.157526161TA[4], NC_000005.10:g.157526161TA[5], NC_000005.10:g.157526161TA[6], NC_000005.10:g.157526161TA[8], NC_000005.10:g.157526161TA[9], NC_000005.9:g.156953169TA[4], NC_000005.9:g.156953169TA[5], NC_000005.9:g.156953169TA[6], NC_000005.9:g.156953169TA[8], NC_000005.9:g.156953169TA[9], NG_046960.1:g.54651AT[4], NG_046960.1:g.54651AT[5], NG_046960.1:g.54651AT[6], NG_046960.1:g.54651AT[8], NG_046960.1:g.54651AT[9]
4.
rs1491378176 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:157530985
(GRCh38)
5:156957993
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157530984:CT:
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
5.
rs1491218223 has merged into rs10570308 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 5:157516949
(GRCh38)
5:156943957
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:157516935:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
-=0.3924/1965
(1000Genomes)
- HGVS:
NC_000005.10:g.157516937CA[6], NC_000005.10:g.157516937CA[7], NC_000005.10:g.157516937CA[9], NC_000005.10:g.157516937CA[10], NC_000005.10:g.157516937CA[11], NC_000005.10:g.157516937CA[12], NC_000005.10:g.157516937CA[14], NC_000005.10:g.157516937CA[15], NC_000005.10:g.157516937CA[16], NC_000005.10:g.157516937CA[17], NC_000005.9:g.156943945CA[6], NC_000005.9:g.156943945CA[7], NC_000005.9:g.156943945CA[9], NC_000005.9:g.156943945CA[10], NC_000005.9:g.156943945CA[11], NC_000005.9:g.156943945CA[12], NC_000005.9:g.156943945CA[14], NC_000005.9:g.156943945CA[15], NC_000005.9:g.156943945CA[16], NC_000005.9:g.156943945CA[17], NG_046960.1:g.63863GT[6], NG_046960.1:g.63863GT[7], NG_046960.1:g.63863GT[9], NG_046960.1:g.63863GT[10], NG_046960.1:g.63863GT[11], NG_046960.1:g.63863GT[12], NG_046960.1:g.63863GT[14], NG_046960.1:g.63863GT[15], NG_046960.1:g.63863GT[16], NG_046960.1:g.63863GT[17]
6.
rs1491216924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GATATATA
[Show Flanks]
- Chromosome:
- 5:157498689
(GRCh38)
5:156925698
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157498689:ATATATA:ATATATAGATATATA
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
ATATATAG=0.00007/1
(GnomAD)
- HGVS:
7.
rs1491207128 has merged into rs11327769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 5:157542269
(GRCh38)
5:156969277
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157542259:TTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:157542259:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:157542259:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:157542259:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:157542259:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.02361/91
(ALSPAC)
- HGVS:
NC_000005.10:g.157542269_157542271del, NC_000005.10:g.157542270_157542271del, NC_000005.10:g.157542271del, NC_000005.10:g.157542271dup, NC_000005.10:g.157542270_157542271dup, NC_000005.9:g.156969277_156969279del, NC_000005.9:g.156969278_156969279del, NC_000005.9:g.156969279del, NC_000005.9:g.156969279dup, NC_000005.9:g.156969278_156969279dup, NG_046960.1:g.38562_38564del, NG_046960.1:g.38563_38564del, NG_046960.1:g.38564del, NG_046960.1:g.38564dup, NG_046960.1:g.38563_38564dup
8.
rs1491178626 has merged into rs11336664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:157539163
(GRCh38)
5:156966171
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157539153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1126/57
(NorthernSweden)
-=0.2426/1215
(1000Genomes)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000005.10:g.157539163_157539170del, NC_000005.10:g.157539166_157539170del, NC_000005.10:g.157539167_157539170del, NC_000005.10:g.157539168_157539170del, NC_000005.10:g.157539169_157539170del, NC_000005.10:g.157539170del, NC_000005.10:g.157539170dup, NC_000005.10:g.157539169_157539170dup, NC_000005.10:g.157539168_157539170dup, NC_000005.9:g.156966171_156966178del, NC_000005.9:g.156966174_156966178del, NC_000005.9:g.156966175_156966178del, NC_000005.9:g.156966176_156966178del, NC_000005.9:g.156966177_156966178del, NC_000005.9:g.156966178del, NC_000005.9:g.156966178dup, NC_000005.9:g.156966177_156966178dup, NC_000005.9:g.156966176_156966178dup, NG_046960.1:g.41663_41670del, NG_046960.1:g.41666_41670del, NG_046960.1:g.41667_41670del, NG_046960.1:g.41668_41670del, NG_046960.1:g.41669_41670del, NG_046960.1:g.41670del, NG_046960.1:g.41670dup, NG_046960.1:g.41669_41670dup, NG_046960.1:g.41668_41670dup
10.
rs1491056820 has merged into rs111680236 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 5:157565723
(GRCh38)
5:156992731
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157565710:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157565710:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157565710:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157565710:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157565710:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0386/22
(NorthernSweden)
- HGVS:
NC_000005.10:g.157565723_157565725del, NC_000005.10:g.157565724_157565725del, NC_000005.10:g.157565725del, NC_000005.10:g.157565725dup, NC_000005.10:g.157565724_157565725dup, NC_000005.9:g.156992731_156992733del, NC_000005.9:g.156992732_156992733del, NC_000005.9:g.156992733del, NC_000005.9:g.156992733dup, NC_000005.9:g.156992732_156992733dup, NG_046960.1:g.15111_15113del, NG_046960.1:g.15112_15113del, NG_046960.1:g.15113del, NG_046960.1:g.15113dup, NG_046960.1:g.15112_15113dup
11.
rs1491055340 has merged into rs10681579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:157566119
(GRCh38)
5:156993127
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157566108:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.058107/291
(1000Genomes)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000005.10:g.157566119_157566125del, NC_000005.10:g.157566123_157566125del, NC_000005.10:g.157566124_157566125del, NC_000005.10:g.157566125del, NC_000005.10:g.157566125dup, NC_000005.10:g.157566124_157566125dup, NC_000005.10:g.157566123_157566125dup, NC_000005.10:g.157566122_157566125dup, NC_000005.9:g.156993127_156993133del, NC_000005.9:g.156993131_156993133del, NC_000005.9:g.156993132_156993133del, NC_000005.9:g.156993133del, NC_000005.9:g.156993133dup, NC_000005.9:g.156993132_156993133dup, NC_000005.9:g.156993131_156993133dup, NC_000005.9:g.156993130_156993133dup, NG_046960.1:g.14709_14715del, NG_046960.1:g.14713_14715del, NG_046960.1:g.14714_14715del, NG_046960.1:g.14715del, NG_046960.1:g.14715dup, NG_046960.1:g.14714_14715dup, NG_046960.1:g.14713_14715dup, NG_046960.1:g.14712_14715dup
12.
rs1491054663 has merged into rs56355740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 5:157476296
(GRCh38)
5:156903304
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.157476296_157476300del, NC_000005.10:g.157476297_157476300del, NC_000005.10:g.157476298_157476300del, NC_000005.10:g.157476299_157476300del, NC_000005.10:g.157476300del, NC_000005.10:g.157476300dup, NC_000005.10:g.157476299_157476300dup, NC_000005.10:g.157476298_157476300dup, NC_000005.9:g.156903304_156903308del, NC_000005.9:g.156903305_156903308del, NC_000005.9:g.156903306_156903308del, NC_000005.9:g.156903307_156903308del, NC_000005.9:g.156903308del, NC_000005.9:g.156903308dup, NC_000005.9:g.156903307_156903308dup, NC_000005.9:g.156903306_156903308dup, NG_046960.1:g.104536_104540del, NG_046960.1:g.104537_104540del, NG_046960.1:g.104538_104540del, NG_046960.1:g.104539_104540del, NG_046960.1:g.104540del, NG_046960.1:g.104540dup, NG_046960.1:g.104539_104540dup, NG_046960.1:g.104538_104540dup, NG_016626.1:g.21278_21282del, NG_016626.1:g.21279_21282del, NG_016626.1:g.21280_21282del, NG_016626.1:g.21281_21282del, NG_016626.1:g.21282del, NG_016626.1:g.21282dup, NG_016626.1:g.21281_21282dup, NG_016626.1:g.21280_21282dup
13.
rs1491036364 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:157539169
(GRCh38)
5:156966178
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157539169::G
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000318/5
(TOMMO)
- HGVS:
14.
rs1490991035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:157549221
(GRCh38)
5:156976229
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157549220:G:A
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- 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:
15.
rs1490967563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:157533526
(GRCh38)
5:156960535
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157533526:CC:CCC
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490952963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:157493637
(GRCh38)
5:156920645
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157493636:C:G
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000156/1
(1000Genomes)
G=0.000342/1
(KOREAN)
G=0.000546/1
(Korea1K)
- HGVS:
17.
rs1490924414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:157550432
(GRCh38)
5:156977440
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157550431:C:T
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
18.
rs1490889587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 5:157565187
(GRCh38)
5:156992195
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157565186:T:A,NC_000005.10:157565186:T:C
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490832838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:157531804
(GRCh38)
5:156958812
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157531803:T:C
- Gene:
- ADAM19 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: