SNP Links for Gene (Select 389458) - SNP

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Select item 14904378221.

rs1490437822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:5072510 (GRCh38)
7:5112141 (GRCh37)
Canonical SPDI:: NC_000007.14:5072509:C:G
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD_exomes)
G=0.000036/5 (GnomAD)
G=0.000072/19 (TOPMED)
HGVS:: NC_000007.14:g.5072510C>G, NC_000007.13:g.5112141C>G

Select item 14901597892.

rs1490159789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5071197 (GRCh38)
7:5110828 (GRCh37)
Canonical SPDI:: NC_000007.14:5071196:T:C
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000007.14:g.5071197T>C, NC_000007.13:g.5110828T>C, NG_047174.1:g.30377T>C

Select item 14901367583.

rs1490136758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:5072466 (GRCh38)
7:5112097 (GRCh37)
Canonical SPDI:: NC_000007.14:5072465:C:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5072466C>A, NC_000007.13:g.5112097C>A, NM_001204513.3:c.*1C>A, NM_001204513.2:c.*1C>A, NM_001204513.1:c.*1C>A, NR_015343.2:n.246C>A, NM_203393.1:c.8C>A

Select item 14890394014.

rs1489039401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:5072601 (GRCh38)
7:5112232 (GRCh37)
Canonical SPDI:: NC_000007.14:5072600:G:C
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5072601G>C, NC_000007.13:g.5112232G>C

Select item 14887137685.

rs1488713768 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGTG>- [Show Flanks]
Chromosome:: 7:5072314 (GRCh38)
7:5111945 (GRCh37)
Canonical SPDI:: NC_000007.14:5072312:GGCGTG:G
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.5072314_5072318del, NC_000007.13:g.5111945_5111949del

Select item 14886909486.

rs1488690948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:5071614 (GRCh38)
7:5111245 (GRCh37)
Canonical SPDI:: NC_000007.14:5071613:A:G
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5071614A>G, NC_000007.13:g.5111245A>G

Select item 14870777057.

rs1487077705 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:5071961 (GRCh38)
7:5111592 (GRCh37)
Canonical SPDI:: NC_000007.14:5071960:GGGGG:GGGG,NC_000007.14:5071960:GGGGG:GGGGGG
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5071965del, NC_000007.14:g.5071965dup, NC_000007.13:g.5111596del, NC_000007.13:g.5111596dup

Select item 14867961478.

rs1486796147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:5072512 (GRCh38)
7:5112143 (GRCh37)
Canonical SPDI:: NC_000007.14:5072511:A:T
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5072512A>T, NC_000007.13:g.5112143A>T

Select item 14865592229.

rs1486559222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:5071866 (GRCh38)
7:5111497 (GRCh37)
Canonical SPDI:: NC_000007.14:5071865:G:C
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5071866G>C, NC_000007.13:g.5111497G>C

Select item 148511508010.

rs1485115080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5071144 (GRCh38)
7:5110775 (GRCh37)
Canonical SPDI:: NC_000007.14:5071143:T:C
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5071144T>C, NC_000007.13:g.5110775T>C, NG_047174.1:g.30324T>C

Select item 148509482911.

rs1485094829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5070530 (GRCh38)
7:5110161 (GRCh37)
Canonical SPDI:: NC_000007.14:5070529:T:C
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5070530T>C, NC_000007.13:g.5110161T>C, NG_047174.1:g.29710T>C

Select item 148477073312.

rs1484770733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:5070181 (GRCh38)
7:5109812 (GRCh37)
Canonical SPDI:: NC_000007.14:5070180:G:T
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.5070181G>T, NC_000007.13:g.5109812G>T, NG_047174.1:g.29361G>T

Select item 148170596313.

rs1481705963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5073004 (GRCh38)
7:5112635 (GRCh37)
Canonical SPDI:: NC_000007.14:5073003:G:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5073004G>A, NC_000007.13:g.5112635G>A, NM_001204513.3:c.*115G>A, NM_001204513.2:c.*115G>A, NM_001204513.1:c.*115G>A, NR_015343.2:n.360G>A, NM_203393.1:c.122G>A

Select item 148076653514.

rs1480766535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5070633 (GRCh38)
7:5110264 (GRCh37)
Canonical SPDI:: NC_000007.14:5070632:G:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.5070633G>A, NC_000007.13:g.5110264G>A, NG_047174.1:g.29813G>A

Select item 148072492815.

rs1480724928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:5072470 (GRCh38)
7:5112101 (GRCh37)
Canonical SPDI:: NC_000007.14:5072469:C:G,NC_000007.14:5072469:C:T
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000014/2 (GnomAD_exomes)
T=0.000553/1 (Korea1K)
HGVS:: NC_000007.14:g.5072470C>G, NC_000007.14:g.5072470C>T, NC_000007.13:g.5112101C>G, NC_000007.13:g.5112101C>T, NM_001204513.3:c.*5C>G, NM_001204513.3:c.*5C>T, NM_001204513.2:c.*5C>G, NM_001204513.2:c.*5C>T, NM_001204513.1:c.*5C>G, NM_001204513.1:c.*5C>T, NR_015343.2:n.250C>G, NR_015343.2:n.250C>T, NM_203393.1:c.12C>G, NM_203393.1:c.12C>T

Select item 148054268816.

rs1480542688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5070910 (GRCh38)
7:5110541 (GRCh37)
Canonical SPDI:: NC_000007.14:5070909:G:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5070910G>A, NC_000007.13:g.5110541G>A, NG_047174.1:g.30090G>A

Select item 148042783617.

rs1480427836 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTG>- [Show Flanks]
Chromosome:: 7:5072946 (GRCh38)
7:5112577 (GRCh37)
Canonical SPDI:: NC_000007.14:5072944:GAGCTG:G
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5072946_5072950del, NC_000007.13:g.5112577_5112581del, NM_001204513.3:c.*57_*61del, NM_001204513.2:c.*57_*61del, NM_001204513.1:c.*57_*61del, NR_015343.2:n.302_306del, NM_203393.1:c.64_68del

Select item 148009350918.

rs1480093509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5073061 (GRCh38)
7:5112692 (GRCh37)
Canonical SPDI:: NC_000007.14:5073060:G:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5073061G>A, NC_000007.13:g.5112692G>A, NM_001204513.3:c.*172G>A, NM_001204513.2:c.*172G>A, NM_001204513.1:c.*172G>A, NR_015343.2:n.417G>A, NM_203393.1:c.179G>A

Select item 148007247119.

rs1480072471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5073241 (GRCh38)
7:5112872 (GRCh37)
Canonical SPDI:: NC_000007.14:5073240:G:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5073241G>A, NC_000007.13:g.5112872G>A

Select item 148001656920.

rs1480016569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5073266 (GRCh38)
7:5112897 (GRCh37)
Canonical SPDI:: NC_000007.14:5073265:G:A
Gene:: RBAKDN (Varview), RBAK-RBAKDN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.5073266G>A, NC_000007.13:g.5112897G>A

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