SNP Links for Gene (Select 245913) - SNP

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Items: 1 to 20 of 3794

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Select item 14915878221.

rs1491587822 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:50023297 (GRCh38)
6:49991010 (GRCh37)
Canonical SPDI:: NC_000006.12:50023296:CA:
Gene:: DEFB110 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.50023297_50023298del, NC_000006.11:g.49991010_49991011del

Select item 14909397822.

rs1490939782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:50021257 (GRCh38)
6:49988970 (GRCh37)
Canonical SPDI:: NC_000006.12:50021256:T:A,NC_000006.12:50021256:T:C,NC_000006.12:50021256:T:G
Gene:: DEFB110 (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)
G=0.000389/7 (TOMMO)
HGVS:: NC_000006.12:g.50021257T>A, NC_000006.12:g.50021257T>C, NC_000006.12:g.50021257T>G, NC_000006.11:g.49988970T>A, NC_000006.11:g.49988970T>C, NC_000006.11:g.49988970T>G

Select item 14907870973.

rs1490787097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:50013117 (GRCh38)
6:49980830 (GRCh37)
Canonical SPDI:: NC_000006.12:50013116:A:G
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50013117A>G, NC_000006.11:g.49980830A>G

Select item 14901019554.

rs1490101955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:50014532 (GRCh38)
6:49982245 (GRCh37)
Canonical SPDI:: NC_000006.12:50014531:A:G
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_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.50014532A>G, NC_000006.11:g.49982245A>G

Select item 14900084135.

rs1490008413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:50010515 (GRCh38)
6:49978228 (GRCh37)
Canonical SPDI:: NC_000006.12:50010514:T:G
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50010515T>G, NC_000006.11:g.49978228T>G

Select item 14899128316.

rs1489912831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:50013012 (GRCh38)
6:49980725 (GRCh37)
Canonical SPDI:: NC_000006.12:50013011:T:A
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50013012T>A, NC_000006.11:g.49980725T>A

Select item 14898470967.

rs1489847096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:50020708 (GRCh38)
6:49988421 (GRCh37)
Canonical SPDI:: NC_000006.12:50020707:A:G
Gene:: DEFB110 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.50020708A>G, NC_000006.11:g.49988421A>G

Select item 14898166578.

rs1489816657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:50021505 (GRCh38)
6:49989218 (GRCh37)
Canonical SPDI:: NC_000006.12:50021504:C:A,NC_000006.12:50021504:C:T
Gene:: DEFB110 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50021505C>A, NC_000006.12:g.50021505C>T, NC_000006.11:g.49989218C>A, NC_000006.11:g.49989218C>T

Select item 14891342009.

rs1489134200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50013397 (GRCh38)
6:49981110 (GRCh37)
Canonical SPDI:: NC_000006.12:50013396:C:T
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.50013397C>T, NC_000006.11:g.49981110C>T

Select item 148894339410.

rs1488943394 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:50021600 (GRCh38)
6:49989313 (GRCh37)
Canonical SPDI:: NC_000006.12:50021594:TATATAT:TATAT
Gene:: DEFB110 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50021596AT[2], NC_000006.11:g.49989309AT[2]

Select item 148873479411.

rs1488734794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:50015819 (GRCh38)
6:49983532 (GRCh37)
Canonical SPDI:: NC_000006.12:50015818:G:A
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50015819G>A, NC_000006.11:g.49983532G>A

Select item 148870620512.

rs1488706205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:50009333 (GRCh38)
6:49977046 (GRCh37)
Canonical SPDI:: NC_000006.12:50009332:A:G
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50009333A>G, NC_000006.11:g.49977046A>G

Select item 148857522413.

rs1488575224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:50017954 (GRCh38)
6:49985667 (GRCh37)
Canonical SPDI:: NC_000006.12:50017953:T:C
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.50017954T>C, NC_000006.11:g.49985667T>C

Select item 148855271714.

rs1488552717 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:50018083 (GRCh38)
6:49985796 (GRCh37)
Canonical SPDI:: NC_000006.12:50018082:G:
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50018083del, NC_000006.11:g.49985796del

Select item 148852262315.

rs1488522623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:50014640 (GRCh38)
6:49982353 (GRCh37)
Canonical SPDI:: NC_000006.12:50014639:C:G
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_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.50014640C>G, NC_000006.11:g.49982353C>G

Select item 148850462016.

rs1488504620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:50015872 (GRCh38)
6:49983585 (GRCh37)
Canonical SPDI:: NC_000006.12:50015871:T:C
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.50015872T>C, NC_000006.11:g.49983585T>C

Select item 148843834917.

rs1488438349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:50011599 (GRCh38)
6:49979312 (GRCh37)
Canonical SPDI:: NC_000006.12:50011598:G:A
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.50011599G>A, NC_000006.11:g.49979312G>A

Select item 148832595818.

rs1488325958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:50012534 (GRCh38)
6:49980247 (GRCh37)
Canonical SPDI:: NC_000006.12:50012533:A:G
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.50012534A>G, NC_000006.11:g.49980247A>G

Select item 148826418719.

rs1488264187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:50022458 (GRCh38)
6:49990171 (GRCh37)
Canonical SPDI:: NC_000006.12:50022457:A:C
Gene:: DEFB110 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50022458A>C, NC_000006.11:g.49990171A>C

Select item 148797144620.

rs1487971446 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:50013126 (GRCh38)
6:49980839 (GRCh37)
Canonical SPDI:: NC_000006.12:50013125:CCC:CC
Gene:: DEFB110 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.50013128del, NC_000006.11:g.49980841del

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