SNP Links for Gene (Select 344967) - SNP

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Select item 14915794341.

rs1491579434 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:40048909 (GRCh38)
4:40050529 (GRCh37)
Canonical SPDI:: NC_000004.12:40048908:CA:
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.40048909_40048910del, NC_000004.11:g.40050529_40050530del

Select item 14915563972.

rs1491556397 has merged into rs35961208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 4:40048626 (GRCh38)
4:40050246 (GRCh37)
Canonical SPDI:: NC_000004.12:40048614:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:40048614:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:40048614:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:40048614:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:40048614:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:40048614:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.225/9 (GENOME_DK)
AA=0.4107/2057 (1000Genomes)
HGVS:: NC_000004.12:g.40048626_40048629del, NC_000004.12:g.40048627_40048629del, NC_000004.12:g.40048628_40048629del, NC_000004.12:g.40048629del, NC_000004.12:g.40048629dup, NC_000004.12:g.40048628_40048629dup, NC_000004.11:g.40050246_40050249del, NC_000004.11:g.40050247_40050249del, NC_000004.11:g.40050248_40050249del, NC_000004.11:g.40050249del, NC_000004.11:g.40050249dup, NC_000004.11:g.40050248_40050249dup

Select item 14912771983.

rs1491277198 has merged into rs34105114 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:40042658 (GRCh38)
4:40044278 (GRCh37)
Canonical SPDI:: NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:40042648:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC344967 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.40042658_40042659del, NC_000004.12:g.40042659del, NC_000004.12:g.40042659dup, NC_000004.12:g.40042658_40042659dup, NC_000004.12:g.40042657_40042659dup, NC_000004.12:g.40042656_40042659dup, NC_000004.12:g.40042655_40042659dup, NC_000004.12:g.40042650_40042659dup, NC_000004.12:g.40042659_40042660insTTTTTTTTTTTTTTT, NC_000004.12:g.40042659_40042660insTTTTTTTTTTTTTTTT, NC_000004.12:g.40042659_40042660insTTTTTTTTTTTTTTTTTT, NC_000004.12:g.40042659_40042660insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.40044278_40044279del, NC_000004.11:g.40044279del, NC_000004.11:g.40044279dup, NC_000004.11:g.40044278_40044279dup, NC_000004.11:g.40044277_40044279dup, NC_000004.11:g.40044276_40044279dup, NC_000004.11:g.40044275_40044279dup, NC_000004.11:g.40044270_40044279dup, NC_000004.11:g.40044279_40044280insTTTTTTTTTTTTTTT, NC_000004.11:g.40044279_40044280insTTTTTTTTTTTTTTTT, NC_000004.11:g.40044279_40044280insTTTTTTTTTTTTTTTTTT, NC_000004.11:g.40044279_40044280insTTTTTTTTTTTTTTTTTTT

Select item 14911647634.

rs1491164763 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:40042649 (GRCh38)
4:40044270 (GRCh37)
Canonical SPDI:: NC_000004.12:40042649::A
Gene:: LOC344967 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000022/1 (GnomAD)
HGVS:: NC_000004.12:g.40042649_40042650insA, NC_000004.11:g.40044269_40044270insA

Select item 14908392675.

rs1490839267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:40054108 (GRCh38)
4:40055728 (GRCh37)
Canonical SPDI:: NC_000004.12:40054107:C:T
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.40054108C>T, NC_000004.11:g.40055728C>T

Select item 14906270106.

rs1490627010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:40052894 (GRCh38)
4:40054514 (GRCh37)
Canonical SPDI:: NC_000004.12:40052893:G:A
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.40052894G>A, NC_000004.11:g.40054514G>A

Select item 14904032797.

rs1490403279 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:40055744 (GRCh38)
4:40057365 (GRCh37)
Canonical SPDI:: NC_000004.12:40055744:A:AA
Gene:: N4BP2 (Varview), LOC344967 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.40055745dup, NC_000004.11:g.40057365dup

Select item 14903527638.

rs1490352763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:40045572 (GRCh38)
4:40047192 (GRCh37)
Canonical SPDI:: NC_000004.12:40045571:G:T
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_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_000004.12:g.40045572G>T, NC_000004.11:g.40047192G>T

Select item 14903480959.

rs1490348095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:40054512 (GRCh38)
4:40056132 (GRCh37)
Canonical SPDI:: NC_000004.12:40054511:C:T
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.40054512C>T, NC_000004.11:g.40056132C>T

Select item 149007475710.

rs1490074757 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148991318511.

rs1489913185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:40048213 (GRCh38)
4:40049833 (GRCh37)
Canonical SPDI:: NC_000004.12:40048212:C:T
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_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_000004.12:g.40048213C>T, NC_000004.11:g.40049833C>T

Select item 148959704512.

rs1489597045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:40052344 (GRCh38)
4:40053964 (GRCh37)
Canonical SPDI:: NC_000004.12:40052343:A:C
Gene:: LOC344967 (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_000004.12:g.40052344A>C, NC_000004.11:g.40053964A>C

Select item 148958868413.

rs1489588684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:40051234 (GRCh38)
4:40052854 (GRCh37)
Canonical SPDI:: NC_000004.12:40051233:T:G
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.40051234T>G, NC_000004.11:g.40052854T>G

Select item 148953542014.

rs1489535420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:40045109 (GRCh38)
4:40046729 (GRCh37)
Canonical SPDI:: NC_000004.12:40045108:C:T
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.40045109C>T, NC_000004.11:g.40046729C>T

Select item 148948471615.

rs1489484716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:40042903 (GRCh38)
4:40044523 (GRCh37)
Canonical SPDI:: NC_000004.12:40042902:T:G
Gene:: LOC344967 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
G=0.00005/4 (GnomAD)
G=0.00067/11 (TOMMO)
G=0.00652/19 (KOREAN)
HGVS:: NC_000004.12:g.40042903T>G, NC_000004.11:g.40044523T>G

Select item 148938370816.

rs1489383708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:40052931 (GRCh38)
4:40054551 (GRCh37)
Canonical SPDI:: NC_000004.12:40052930:A:C
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.40052931A>C, NC_000004.11:g.40054551A>C

Select item 148934857317.

rs1489348573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:40048126 (GRCh38)
4:40049746 (GRCh37)
Canonical SPDI:: NC_000004.12:40048125:C:T
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.40048126C>T, NC_000004.11:g.40049746C>T

Select item 148924115518.

rs1489241155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:40056000 (GRCh38)
4:40057620 (GRCh37)
Canonical SPDI:: NC_000004.12:40055999:G:A
Gene:: N4BP2 (Varview), LOC344967 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.40056000G>A, NC_000004.11:g.40057620G>A

Select item 148879549819.

rs1488795498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:40048598 (GRCh38)
4:40050218 (GRCh37)
Canonical SPDI:: NC_000004.12:40048597:C:A
Gene:: LOC344967 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.002094/28 (TOMMO)
HGVS:: NC_000004.12:g.40048598C>A, NC_000004.11:g.40050218C>A

Select item 148853038020.

rs1488530380 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:40058593 (GRCh38)
4:40060213 (GRCh37)
Canonical SPDI:: NC_000004.12:40058592:TTT:TT
Gene:: N4BP2 (Varview), LOC344967 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.40058595del, NC_000004.11:g.40060215del

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