SNP Links for Gene (Select 245928) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1503

<< First< Prev

Page of 76

Next >Last >>

Select item 14905273961.

rs1490527396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49964591 (GRCh38)
6:49932304 (GRCh37)
Canonical SPDI:: NC_000006.12:49964590:T:C
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49964591T>C, NC_000006.11:g.49932304T>C

Select item 14904146302.

rs1490414630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:49962990 (GRCh38)
6:49930703 (GRCh37)
Canonical SPDI:: NC_000006.12:49962989:C:A
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.49962990C>A, NC_000006.11:g.49930703C>A

Select item 14900795983.

rs1490079598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49965006 (GRCh38)
6:49932719 (GRCh37)
Canonical SPDI:: NC_000006.12:49965005:A:G
Gene:: DEFB114 (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.49965006A>G, NC_000006.11:g.49932719A>G

Select item 14890485744.

rs1489048574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49963103 (GRCh38)
6:49930816 (GRCh37)
Canonical SPDI:: NC_000006.12:49963102:C:T
Gene:: DEFB114 (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.49963103C>T, NC_000006.11:g.49930816C>T

Select item 14887296725.

rs1488729672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:49966017 (GRCh38)
6:49933730 (GRCh37)
Canonical SPDI:: NC_000006.12:49966016:C:A
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49966017C>A, NC_000006.11:g.49933730C>A

Select item 14886705746.

rs1488670574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49960794 (GRCh38)
6:49928507 (GRCh37)
Canonical SPDI:: NC_000006.12:49960793:A:G
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.49960794A>G, NC_000006.11:g.49928507A>G

Select item 14881214027.

rs1488121402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49962514 (GRCh38)
6:49930227 (GRCh37)
Canonical SPDI:: NC_000006.12:49962513:A:G
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000057/15 (TOPMED)
HGVS:: NC_000006.12:g.49962514A>G, NC_000006.11:g.49930227A>G

Select item 14870645378.

rs1487064537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49964546 (GRCh38)
6:49932259 (GRCh37)
Canonical SPDI:: NC_000006.12:49964545:C:T
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00027/5 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.001116/5 (Estonian)
HGVS:: NC_000006.12:g.49964546C>T, NC_000006.11:g.49932259C>T

Select item 14867147319.

rs1486714731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:49960039 (GRCh38)
6:49927752 (GRCh37)
Canonical SPDI:: NC_000006.12:49960038:C:A
Gene:: DEFB114 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.49960039C>A, NC_000006.11:g.49927752C>A

Select item 148665943110.

rs1486659431 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:49960886 (GRCh38)
6:49928599 (GRCh37)
Canonical SPDI:: NC_000006.12:49960885:TTTT:TTT
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49960889del, NC_000006.11:g.49928602del

Select item 148637685711.

rs1486376857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49963723 (GRCh38)
6:49931436 (GRCh37)
Canonical SPDI:: NC_000006.12:49963722:T:C
Gene:: DEFB114 (Varview)
Functional Consequence:: 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.49963723T>C, NC_000006.11:g.49931436T>C

Select item 148474907712.

rs1484749077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49964085 (GRCh38)
6:49931798 (GRCh37)
Canonical SPDI:: NC_000006.12:49964084:G:T
Gene:: DEFB114 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49964085G>T, NC_000006.11:g.49931798G>T, NM_001037499.2:c.21C>A, NM_001037499.1:c.21C>A

Select item 148437330113.

rs1484373301 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATT>- [Show Flanks]
Chromosome:: 6:49961322 (GRCh38)
6:49929035 (GRCh37)
Canonical SPDI:: NC_000006.12:49961315:TTTATTTATT:TTTATT
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49961318TATT[1], NC_000006.11:g.49929031TATT[1]

Select item 148404271114.

rs1484042711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49965780 (GRCh38)
6:49933493 (GRCh37)
Canonical SPDI:: NC_000006.12:49965779:T:G
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.49965780T>G, NC_000006.11:g.49933493T>G

Select item 148240894415.

rs1482408944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:49960553 (GRCh38)
6:49928266 (GRCh37)
Canonical SPDI:: NC_000006.12:49960552:C:A,NC_000006.12:49960552:C:T
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.49960553C>A, NC_000006.12:g.49960553C>T, NC_000006.11:g.49928266C>A, NC_000006.11:g.49928266C>T

Select item 148186471016.

rs1481864710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49965875 (GRCh38)
6:49933588 (GRCh37)
Canonical SPDI:: NC_000006.12:49965874:C:T
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49965875C>T, NC_000006.11:g.49933588C>T

Select item 148111626917.

rs1481116269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49963356 (GRCh38)
6:49931069 (GRCh37)
Canonical SPDI:: NC_000006.12:49963355:T:G
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000022/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.49963356T>G, NC_000006.11:g.49931069T>G

Select item 148094998718.

rs1480949987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49961130 (GRCh38)
6:49928843 (GRCh37)
Canonical SPDI:: NC_000006.12:49961129:T:A
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.49961130T>A, NC_000006.11:g.49928843T>A

Select item 148090663419.

rs1480906634 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:49963443 (GRCh38)
6:49931156 (GRCh37)
Canonical SPDI:: NC_000006.12:49963442:AT:
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49963443_49963444del, NC_000006.11:g.49931156_49931157del

Select item 148082096720.

rs1480820967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49964353 (GRCh38)
6:49932066 (GRCh37)
Canonical SPDI:: NC_000006.12:49964352:G:A
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49964353G>A, NC_000006.11:g.49932066G>A

<< First< Prev

Page of 76

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 245928) (1503)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: