SNP Links for Gene (Select 101928661) - SNP

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Links from Gene

Items: 1 to 20 of 1450

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Select item 14914705821.

rs1491470582 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: 6:146600924 (GRCh38)
6:146922061 (GRCh37)
Canonical SPDI:: NC_000006.12:146600924:C:CAC,NC_000006.12:146600924:C:CACAC,NC_000006.12:146600924:C:CACACAC,NC_000006.12:146600924:C:CACACACAC
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
CACACACA=0.000004/1 (TOPMED)
CA=0.022414/13 (NorthernSweden)
HGVS:: NC_000006.12:g.146600925_146600926insAC, NC_000006.12:g.146600925_146600926insACAC, NC_000006.12:g.146600926AC[3], NC_000006.12:g.146600926AC[4], NC_000006.11:g.146922061_146922062insAC, NC_000006.11:g.146922061_146922062insACAC, NC_000006.11:g.146922062AC[3], NC_000006.11:g.146922062AC[4]

Select item 14913717202.

rs1491371720 has merged into rs200831409 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 6:146600926 (GRCh38)
6:146922062 (GRCh37)
Canonical SPDI:: NC_000006.12:146600923:GCGC:GC,NC_000006.12:146600923:GCGC:GCGCGC
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0.01143/175 (ALFA)
-=0.02833/17 (NorthernSweden)
-=0.0673/431 (1000Genomes)
-=0.07892/1317 (TOMMO)
-=0.09658/175 (Korea1K)
HGVS:: NC_000006.12:g.146600924GC[1], NC_000006.12:g.146600924GC[3], NC_000006.11:g.146922060GC[1], NC_000006.11:g.146922060GC[3]

Select item 14912030463.

rs1491203046 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:146600923 (GRCh38)
6:146922059 (GRCh37)
Canonical SPDI:: NC_000006.12:146600922:TG:
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.146600923_146600924del, NC_000006.11:g.146922059_146922060del

Select item 14910545774.

rs1491054577 has merged into rs11341825 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 6:146600729 (GRCh38)
6:146921865 (GRCh37)
Canonical SPDI:: NC_000006.12:146600719:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:146600719:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:146600719:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:146600719:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0019/9 (ALFA)
T=0.2664/1334 (1000Genomes)
HGVS:: NC_000006.12:g.146600729_146600730del, NC_000006.12:g.146600730del, NC_000006.12:g.146600730dup, NC_000006.12:g.146600729_146600730dup, NC_000006.11:g.146921865_146921866del, NC_000006.11:g.146921866del, NC_000006.11:g.146921866dup, NC_000006.11:g.146921865_146921866dup

Select item 14905054785.

rs1490505478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:146598069 (GRCh38)
6:146919205 (GRCh37)
Canonical SPDI:: NC_000006.12:146598068:C:G,NC_000006.12:146598068:C:T
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: splice_donor_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.146598069C>G, NC_000006.12:g.146598069C>T, NC_000006.11:g.146919205C>G, NC_000006.11:g.146919205C>T

Select item 14904291946.

rs1490429194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:146600098 (GRCh38)
6:146921234 (GRCh37)
Canonical SPDI:: NC_000006.12:146600097:A:G
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.146600098A>G, NC_000006.11:g.146921234A>G

Select item 14900477457.

rs1490047745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:146598086 (GRCh38)
6:146919222 (GRCh37)
Canonical SPDI:: NC_000006.12:146598085:A:G
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.146598086A>G, NC_000006.11:g.146919222A>G, NR_125860.1:n.185T>C

Select item 14900320578.

rs1490032057 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:146598234 (GRCh38)
6:146919370 (GRCh37)
Canonical SPDI:: NC_000006.12:146598232:TAT:T
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.146598234_146598235del, NC_000006.11:g.146919370_146919371del

Select item 14892726189.

rs1489272618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:146597583 (GRCh38)
6:146918719 (GRCh37)
Canonical SPDI:: NC_000006.12:146597582:G:C
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.146597583G>C, NC_000006.11:g.146918719G>C

Select item 148875340510.

rs1488753405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:146596901 (GRCh38)
6:146918037 (GRCh37)
Canonical SPDI:: NC_000006.12:146596900:T:A
Gene:: ADGB-DT (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_000006.12:g.146596901T>A, NC_000006.11:g.146918037T>A

Select item 148810030311.

rs1488100303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:146595750 (GRCh38)
6:146916886 (GRCh37)
Canonical SPDI:: NC_000006.12:146595749:C:A
Gene:: ADGB-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.146595750C>A, NC_000006.11:g.146916886C>A, NR_125860.1:n.956G>T

Select item 148727750512.

rs1487277505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:146595933 (GRCh38)
6:146917069 (GRCh37)
Canonical SPDI:: NC_000006.12:146595932:G:A
Gene:: ADGB-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.146595933G>A, NC_000006.11:g.146917069G>A, NR_125860.1:n.773C>T

Select item 148628458013.

rs1486284580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:146594336 (GRCh38)
6:146915472 (GRCh37)
Canonical SPDI:: NC_000006.12:146594335:C:T
Gene:: ADGB-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.146594336C>T, NC_000006.11:g.146915472C>T

Select item 148522380214.

rs1485223802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:146596699 (GRCh38)
6:146917835 (GRCh37)
Canonical SPDI:: NC_000006.12:146596698:T:A
Gene:: ADGB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.146596699T>A, NC_000006.11:g.146917835T>A

Select item 148513245715.

rs1485132457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:146594440 (GRCh38)
6:146915576 (GRCh37)
Canonical SPDI:: NC_000006.12:146594439:C:G
Gene:: ADGB-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.146594440C>G, NC_000006.11:g.146915576C>G

Select item 148471077616.

rs1484710776 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:146598260 (GRCh38)
6:146919396 (GRCh37)
Canonical SPDI:: NC_000006.12:146598259:AAA:AA
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.146598262del, NC_000006.11:g.146919398del

Select item 148375103417.

rs1483751034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:146599996 (GRCh38)
6:146921132 (GRCh37)
Canonical SPDI:: NC_000006.12:146599995:T:C
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.146599996T>C, NC_000006.11:g.146921132T>C

Select item 148359572118.

rs1483595721 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCATAAAGAA [Show Flanks]
Chromosome:: 6:146596608 (GRCh38)
6:146917745 (GRCh37)
Canonical SPDI:: NC_000006.12:146596608:A:ACCCATAAAGAA
Gene:: ADGB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCCATAAAGAA=0./0 (ALFA)
ACCCATAAAGA=0.000004/1 (TOPMED)
ACCCATAAAGA=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.146596609_146596610insCCCATAAAGAA, NC_000006.11:g.146917745_146917746insCCCATAAAGAA

Select item 148326935419.

rs1483269354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:146594222 (GRCh38)
6:146915358 (GRCh37)
Canonical SPDI:: NC_000006.12:146594221:T:C
Gene:: ADGB-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.146594222T>C, NC_000006.11:g.146915358T>C

Select item 148288680220.

rs1482886802 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAA>-,ACAAAACAAA [Show Flanks]
Chromosome:: 6:146600622 (GRCh38)
6:146921758 (GRCh37)
Canonical SPDI:: NC_000006.12:146600608:AAAACAAAACAAAACAAA:AAAACAAAACAAA,NC_000006.12:146600608:AAAACAAAACAAAACAAA:AAAACAAAACAAAACAAAACAAA
Gene:: ADGB (Varview), ADGB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAACAAAACAAAACAAA=0./0 (ALFA)
AAAAC=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.146600612ACAAA[2], NC_000006.12:g.146600612ACAAA[4], NC_000006.11:g.146921748ACAAA[2], NC_000006.11:g.146921748ACAAA[4]

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