SNP Links for Gene (Select 23593) - SNP

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Items: 1 to 20 of 3342

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Select item 14912631231.

rs1491263123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 6:138406870 (GRCh38)
6:138728008 (GRCh37)
Canonical SPDI:: NC_000006.12:138406870:A:ACA
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
AC=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.138406871_138406872insCA, NC_000006.11:g.138728008_138728009insCA, NG_050594.1:g.7673_7674insCA

Select item 14909022602.

rs1490902260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138404280 (GRCh38)
6:138725417 (GRCh37)
Canonical SPDI:: NC_000006.12:138404279:G:A
Gene:: HEBP2 (Varview)
Functional Consequence:: 5_prime_UTR_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:: NC_000006.12:g.138404280G>A, NC_000006.11:g.138725417G>A, NG_050594.1:g.5082G>A, NM_014320.3:c.-216G>A, NM_014320.2:c.-216G>A, NM_001326381.2:c.-216G>A, NM_001326381.1:c.-216G>A

Select item 14908111893.

rs1490811189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138412335 (GRCh38)
6:138733472 (GRCh37)
Canonical SPDI:: NC_000006.12:138412334:C:T
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138412335C>T, NC_000006.11:g.138733472C>T, NG_050594.1:g.13137C>T

Select item 14906327534.

rs1490632753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:138412759 (GRCh38)
6:138733896 (GRCh37)
Canonical SPDI:: NC_000006.12:138412758:G:C
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.138412759G>C, NC_000006.11:g.138733896G>C, NG_050594.1:g.13561G>C

Select item 14901961025.

rs1490196102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138406159 (GRCh38)
6:138727296 (GRCh37)
Canonical SPDI:: NC_000006.12:138406158:G:A
Gene:: HEBP2 (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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.138406159G>A, NC_000006.11:g.138727296G>A, NG_050594.1:g.6961G>A

Select item 14900294356.

rs1490029435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138410618 (GRCh38)
6:138731755 (GRCh37)
Canonical SPDI:: NC_000006.12:138410617:G:A
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
HGVS:: NC_000006.12:g.138410618G>A, NC_000006.11:g.138731755G>A, NG_050594.1:g.11420G>A

Select item 14897297367.

rs1489729736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138404043 (GRCh38)
6:138725180 (GRCh37)
Canonical SPDI:: NC_000006.12:138404042:C:T
Gene:: HEBP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.138404043C>T, NC_000006.11:g.138725180C>T, NG_050594.1:g.4845C>T

Select item 14893677248.

rs1489367724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138410783 (GRCh38)
6:138731920 (GRCh37)
Canonical SPDI:: NC_000006.12:138410782:G:A
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.138410783G>A, NC_000006.11:g.138731920G>A, NG_050594.1:g.11585G>A

Select item 14893344379.

rs1489334437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:138413168 (GRCh38)
6:138734305 (GRCh37)
Canonical SPDI:: NC_000006.12:138413167:G:T
Gene:: HEBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.138413168G>T, NC_000006.11:g.138734305G>T, NG_050594.1:g.13970G>T, NM_014320.3:c.*90G>T, NM_014320.2:c.*90G>T, NM_001326381.2:c.*239G>T, NM_001326381.1:c.*239G>T, NM_001326380.2:c.*90G>T, NM_001326380.1:c.*90G>T

Select item 148908686610.

rs1489086866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:138412437 (GRCh38)
6:138733574 (GRCh37)
Canonical SPDI:: NC_000006.12:138412436:G:C
Gene:: HEBP2 (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)
C=0.000684/2 (KOREAN)
C=0.001638/3 (Korea1K)
HGVS:: NC_000006.12:g.138412437G>C, NC_000006.11:g.138733574G>C, NG_050594.1:g.13239G>C

Select item 148898762511.

rs1488987625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:138413849 (GRCh38)
6:138734986 (GRCh37)
Canonical SPDI:: NC_000006.12:138413848:C:G
Gene:: HEBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138413849C>G, NC_000006.11:g.138734986C>G, NG_050594.1:g.14651C>G, NM_014320.3:c.*771C>G, NM_001326381.2:c.*920C>G, NM_001326380.2:c.*771C>G

Select item 148893694212.

rs1488936942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138414916 (GRCh38)
6:138736053 (GRCh37)
Canonical SPDI:: NC_000006.12:138414915:C:T
Gene:: HEBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000006.12:g.138414916C>T, NC_000006.11:g.138736053C>T, NG_050594.1:g.15718C>T, NM_014320.3:c.*1838C>T, NM_001326381.2:c.*1987C>T, NM_001326380.2:c.*1838C>T

Select item 148885139913.

rs1488851399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:138402940 (GRCh38)
6:138724077 (GRCh37)
Canonical SPDI:: NC_000006.12:138402939:A:G
Gene:: HEBP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138402940A>G, NC_000006.11:g.138724077A>G, NG_050594.1:g.3742A>G, NG_032810.1:g.807T>C

Select item 148820207414.

rs1488202074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:138402248 (GRCh38)
6:138723385 (GRCh37)
Canonical SPDI:: NC_000006.12:138402247:A:G
Gene:: HEBP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.138402248A>G, NC_000006.11:g.138723385A>G, NG_050594.1:g.3050A>G, NG_032810.1:g.1499T>C

Select item 148765367515.

rs1487653675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138409049 (GRCh38)
6:138730186 (GRCh37)
Canonical SPDI:: NC_000006.12:138409048:C:T
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.138409049C>T, NC_000006.11:g.138730186C>T, NG_050594.1:g.9851C>T

Select item 148748308016.

rs1487483080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:138402526 (GRCh38)
6:138723663 (GRCh37)
Canonical SPDI:: NC_000006.12:138402525:T:C
Gene:: HEBP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.138402526T>C, NC_000006.11:g.138723663T>C, NG_050594.1:g.3328T>C, NG_032810.1:g.1221A>G

Select item 148727206217.

rs1487272062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138404639 (GRCh38)
6:138725776 (GRCh37)
Canonical SPDI:: NC_000006.12:138404638:C:T
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.138404639C>T, NC_000006.11:g.138725776C>T, NG_050594.1:g.5441C>T

Select item 148720098618.

rs1487200986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:138405679 (GRCh38)
6:138726816 (GRCh37)
Canonical SPDI:: NC_000006.12:138405678:T:G
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.138405679T>G, NC_000006.11:g.138726816T>G, NG_050594.1:g.6481T>G

Select item 148704052519.

rs1487040525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138406932 (GRCh38)
6:138728069 (GRCh37)
Canonical SPDI:: NC_000006.12:138406931:G:A
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138406932G>A, NC_000006.11:g.138728069G>A, NG_050594.1:g.7734G>A

Select item 148682429220.

rs1486824292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:138407767 (GRCh38)
6:138728904 (GRCh37)
Canonical SPDI:: NC_000006.12:138407766:C:A,NC_000006.12:138407766:C:G
Gene:: HEBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.138407767C>A, NC_000006.12:g.138407767C>G, NC_000006.11:g.138728904C>A, NC_000006.11:g.138728904C>G, NG_050594.1:g.8569C>A, NG_050594.1:g.8569C>G

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