SNP Links for Gene (Select 56954) - SNP

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Select item 14911502181.

rs1491150218 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14911340492.

rs1491134049 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:100353776 (GRCh38)
3:100072621 (GRCh37)
Canonical SPDI:: NC_000003.12:100353776:C:CC
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.100353777dup, NC_000003.11:g.100072621dup

Select item 14910682813.

rs1491068281 has merged into rs11297682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA,AAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:100333993 (GRCh38)
3:100052837 (GRCh37)
Canonical SPDI:: NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:100333980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NIT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4834/2421 (1000Genomes)
HGVS:: NC_000003.12:g.100333993_100333996del, NC_000003.12:g.100333994_100333996del, NC_000003.12:g.100333995_100333996del, NC_000003.12:g.100333996del, NC_000003.12:g.100333996dup, NC_000003.12:g.100333995_100333996dup, NC_000003.12:g.100333994_100333996dup, NC_000003.12:g.100333993_100333996dup, NC_000003.12:g.100333987_100333996dup, NC_000003.12:g.100333981_100333996A[17]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.100052837_100052840del, NC_000003.11:g.100052838_100052840del, NC_000003.11:g.100052839_100052840del, NC_000003.11:g.100052840del, NC_000003.11:g.100052840dup, NC_000003.11:g.100052839_100052840dup, NC_000003.11:g.100052838_100052840dup, NC_000003.11:g.100052837_100052840dup, NC_000003.11:g.100052831_100052840dup, NC_000003.11:g.100052825_100052840A[17]GAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14909228064.

rs1490922806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:100342111 (GRCh38)
3:100060955 (GRCh37)
Canonical SPDI:: NC_000003.12:100342110:T:C
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.100342111T>C, NC_000003.11:g.100060955T>C

Select item 14908196815.

rs1490819681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:100353386 (GRCh38)
3:100072230 (GRCh37)
Canonical SPDI:: NC_000003.12:100353385:G:T
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.100353386G>T, NC_000003.11:g.100072230G>T

Select item 14907805506.

rs1490780550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:100334193 (GRCh38)
3:100053037 (GRCh37)
Canonical SPDI:: NC_000003.12:100334192:A:G
Gene:: NIT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.100334193A>G, NC_000003.11:g.100053037A>G

Select item 14906697977.

rs1490669797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:100345661 (GRCh38)
3:100064505 (GRCh37)
Canonical SPDI:: NC_000003.12:100345660:T:C
Gene:: NIT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.100345661T>C, NC_000003.11:g.100064505T>C, NM_020202.5:c.413T>C, NM_020202.4:c.413T>C, NP_064587.1:p.Phe138Ser

Select item 14906526618.

rs1490652661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:100350220 (GRCh38)
3:100069064 (GRCh37)
Canonical SPDI:: NC_000003.12:100350219:G:C
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.100350220G>C, NC_000003.11:g.100069064G>C

Select item 14903343409.

rs1490334340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:100350120 (GRCh38)
3:100068964 (GRCh37)
Canonical SPDI:: NC_000003.12:100350119:C:T
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.100350120C>T, NC_000003.11:g.100068964C>T

Select item 149015874410.

rs1490158744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:100350805 (GRCh38)
3:100069649 (GRCh37)
Canonical SPDI:: NC_000003.12:100350804:A:G
Gene:: NIT2 (Varview)
Functional Consequence:: 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_000003.12:g.100350805A>G, NC_000003.11:g.100069649A>G

Select item 148985336911.

rs1489853369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:100341044 (GRCh38)
3:100059888 (GRCh37)
Canonical SPDI:: NC_000003.12:100341043:T:C
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.100341044T>C, NC_000003.11:g.100059888T>C

Select item 148983818712.

rs1489838187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:100351303 (GRCh38)
3:100070147 (GRCh37)
Canonical SPDI:: NC_000003.12:100351302:A:G
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.100351303A>G, NC_000003.11:g.100070147A>G

Select item 148974383213.

rs1489743832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:100335577 (GRCh38)
3:100054421 (GRCh37)
Canonical SPDI:: NC_000003.12:100335576:G:A
Gene:: NIT2 (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)
HGVS:: NC_000003.12:g.100335577G>A, NC_000003.11:g.100054421G>A, NG_077275.1:g.193G>A

Select item 148970325914.

rs1489703259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:100334475 (GRCh38)
3:100053319 (GRCh37)
Canonical SPDI:: NC_000003.12:100334474:G:A
Gene:: NIT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.100334475G>A, NC_000003.11:g.100053319G>A

Select item 148965218915.

rs1489652189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:100336519 (GRCh38)
3:100055363 (GRCh37)
Canonical SPDI:: NC_000003.12:100336518:C:A,NC_000003.12:100336518:C:T
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.100336519C>A, NC_000003.12:g.100336519C>T, NC_000003.11:g.100055363C>A, NC_000003.11:g.100055363C>T

Select item 148960557016.

rs1489605570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:100334887 (GRCh38)
3:100053731 (GRCh37)
Canonical SPDI:: NC_000003.12:100334886:C:A,NC_000003.12:100334886:C:T
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.100334887C>A, NC_000003.12:g.100334887C>T, NC_000003.11:g.100053731C>A, NC_000003.11:g.100053731C>T

Select item 148942424217.

rs1489424242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:100351079 (GRCh38)
3:100069923 (GRCh37)
Canonical SPDI:: NC_000003.12:100351078:G:A
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.100351079G>A, NC_000003.11:g.100069923G>A

Select item 148909361718.

rs1489093617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:100337811 (GRCh38)
3:100056655 (GRCh37)
Canonical SPDI:: NC_000003.12:100337810:G:A,NC_000003.12:100337810:G:C
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000045/12 (TOPMED)
A=0.000078/11 (GnomAD)
HGVS:: NC_000003.12:g.100337811G>A, NC_000003.12:g.100337811G>C, NC_000003.11:g.100056655G>A, NC_000003.11:g.100056655G>C

Select item 148896930519.

rs1488969305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:100338868 (GRCh38)
3:100057713 (GRCh37)
Canonical SPDI:: NC_000003.12:100338868:GGGGG:GGGGGG
Gene:: NIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.100338873dup, NC_000003.11:g.100057717dup

Select item 148890874820.

rs1488908748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:100339882 (GRCh38)
3:100058726 (GRCh37)
Canonical SPDI:: NC_000003.12:100339881:C:T
Gene:: NIT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.100339882C>T, NC_000003.11:g.100058726C>T, NM_020202.5:c.194C>T, NM_020202.4:c.194C>T, NP_064587.1:p.Ser65Phe

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