SNP Links for Gene (Select 51299) - SNP

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Select item 14915088021.

rs1491508802 has merged into rs3834316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:5998107 (GRCh38)
6:5998340 (GRCh37)
Canonical SPDI:: NC_000006.12:5998101:TTTTTTTTTT:TTTTT,NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTT,NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: NRN1 (Varview), LOC105374898 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.385951/1890 (1000Genomes)
-=0.422963/111954 (TOPMED)
T=0.458516/1879 (Estonian)
HGVS:: NC_000006.12:g.5998107_5998111del, NC_000006.12:g.5998110_5998111del, NC_000006.12:g.5998111del, NC_000006.12:g.5998111dup, NC_000006.12:g.5998110_5998111dup, NC_000006.12:g.5998106_5998111dup, NC_000006.12:g.5998111_5998112insTTTTTTTTTTT, NC_000006.11:g.5998340_5998344del, NC_000006.11:g.5998343_5998344del, NC_000006.11:g.5998344del, NC_000006.11:g.5998344dup, NC_000006.11:g.5998343_5998344dup, NC_000006.11:g.5998339_5998344dup, NC_000006.11:g.5998344_5998345insTTTTTTTTTTT, XM_006715106.4:c.*870_*874del, XM_006715106.4:c.*873_*874del, XM_006715106.4:c.*874del, XM_006715106.4:c.*874dup, XM_006715106.4:c.*873_*874dup, XM_006715106.4:c.*869_*874dup, XM_006715106.4:c.*874_*875insAAAAAAAAAAA, XM_006715106.3:c.*870_*874del, XM_006715106.3:c.*873_*874del, XM_006715106.3:c.*874del, XM_006715106.3:c.*874dup, XM_006715106.3:c.*873_*874dup, XM_006715106.3:c.*869_*874dup, XM_006715106.3:c.*874_*875insAAAAAAAAAAA, XM_006715106.2:c.*870_*874del, XM_006715106.2:c.*873_*874del, XM_006715106.2:c.*874del, XM_006715106.2:c.*874dup, XM_006715106.2:c.*873_*874dup, XM_006715106.2:c.*869_*874dup, XM_006715106.2:c.*874_*875insAAAAAAAAAAA, XM_006715106.1:c.*870_*874del, XM_006715106.1:c.*873_*874del, XM_006715106.1:c.*874del, XM_006715106.1:c.*874dup, XM_006715106.1:c.*873_*874dup, XM_006715106.1:c.*869_*874dup, XM_006715106.1:c.*874_*875insAAAAAAAAAAA, XM_006715107.4:c.*870_*874del, XM_006715107.4:c.*873_*874del, XM_006715107.4:c.*874del, XM_006715107.4:c.*874dup, XM_006715107.4:c.*873_*874dup, XM_006715107.4:c.*869_*874dup, XM_006715107.4:c.*874_*875insAAAAAAAAAAA, XM_006715107.3:c.*870_*874del, XM_006715107.3:c.*873_*874del, XM_006715107.3:c.*874del, XM_006715107.3:c.*874dup, XM_006715107.3:c.*873_*874dup, XM_006715107.3:c.*869_*874dup, XM_006715107.3:c.*874_*875insAAAAAAAAAAA, XM_006715107.2:c.*870_*874del, XM_006715107.2:c.*873_*874del, XM_006715107.2:c.*874del, XM_006715107.2:c.*874dup, XM_006715107.2:c.*873_*874dup, XM_006715107.2:c.*869_*874dup, XM_006715107.2:c.*874_*875insAAAAAAAAAAA, XM_006715107.1:c.*870_*874del, XM_006715107.1:c.*873_*874del, XM_006715107.1:c.*874del, XM_006715107.1:c.*874dup, XM_006715107.1:c.*873_*874dup, XM_006715107.1:c.*869_*874dup, XM_006715107.1:c.*874_*875insAAAAAAAAAAA, NM_016588.3:c.*870_*874del, NM_016588.3:c.*873_*874del, NM_016588.3:c.*874del, NM_016588.3:c.*874dup, NM_016588.3:c.*873_*874dup, NM_016588.3:c.*869_*874dup, NM_016588.3:c.*874_*875insAAAAAAAAAAA, NM_016588.2:c.*870_*874del, NM_016588.2:c.*873_*874del, NM_016588.2:c.*874del, NM_016588.2:c.*874dup, NM_016588.2:c.*873_*874dup, NM_016588.2:c.*869_*874dup, NM_016588.2:c.*874_*875insAAAAAAAAAAA, NM_001278711.2:c.*870_*874del, NM_001278711.2:c.*873_*874del, NM_001278711.2:c.*874del, NM_001278711.2:c.*874dup, NM_001278711.2:c.*873_*874dup, NM_001278711.2:c.*869_*874dup, NM_001278711.2:c.*874_*875insAAAAAAAAAAA, NM_001278711.1:c.*870_*874del, NM_001278711.1:c.*873_*874del, NM_001278711.1:c.*874del, NM_001278711.1:c.*874dup, NM_001278711.1:c.*873_*874dup, NM_001278711.1:c.*869_*874dup, NM_001278711.1:c.*874_*875insAAAAAAAAAAA, NM_001278710.2:c.*870_*874del, NM_001278710.2:c.*873_*874del, NM_001278710.2:c.*874del, NM_001278710.2:c.*874dup, NM_001278710.2:c.*873_*874dup, NM_001278710.2:c.*869_*874dup, NM_001278710.2:c.*874_*875insAAAAAAAAAAA, NM_001278710.1:c.*870_*874del, NM_001278710.1:c.*873_*874del, NM_001278710.1:c.*874del, NM_001278710.1:c.*874dup, NM_001278710.1:c.*873_*874dup, NM_001278710.1:c.*869_*874dup, NM_001278710.1:c.*874_*875insAAAAAAAAAAA

Select item 14914381622.

rs1491438162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:6001410 (GRCh38)
6:6001644 (GRCh37)
Canonical SPDI:: NC_000006.12:6001410:GGGG:GGGGG
Gene:: NRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.6001414dup, NC_000006.11:g.6001647dup

Select item 14913507663.

rs1491350766 [Homo sapiens]

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

Select item 14913464814.

rs1491346481 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:6008394 (GRCh38)
6:6008627 (GRCh37)
Canonical SPDI:: NC_000006.12:6008393:CT:
Gene:: NRN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.6008394_6008395del, NC_000006.11:g.6008627_6008628del

Select item 14912789665.

rs1491278966 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:6000749 (GRCh38)
6:6000982 (GRCh37)
Canonical SPDI:: NC_000006.12:6000747:TAT:T
Gene:: NRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000006.12:g.6000749_6000750del, NC_000006.11:g.6000982_6000983del

Select item 14911184716.

rs1491118471 has merged into rs68104105 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 6:6008255 (GRCh38)
6:6008488 (GRCh37)
Canonical SPDI:: NC_000006.12:6008245:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:6008245:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:6008245:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:6008245:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: NRN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.236378/911 (ALSPAC)
A=0.237458/142 (NorthernSweden)
A=0.248652/922 (TWINSUK)
A=0.253594/1270 (1000Genomes)
A=0.275/11 (GENOME_DK)
HGVS:: NC_000006.12:g.6008255_6008256del, NC_000006.12:g.6008256del, NC_000006.12:g.6008256dup, NC_000006.12:g.6008255_6008256dup, NC_000006.11:g.6008488_6008489del, NC_000006.11:g.6008489del, NC_000006.11:g.6008489dup, NC_000006.11:g.6008488_6008489dup

Select item 14910120857.

rs1491012085 has merged into rs55712329 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:6000735 (GRCh38)
6:6000968 (GRCh37)
Canonical SPDI:: NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:6000722:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.6000735_6000748del, NC_000006.12:g.6000736_6000748del, NC_000006.12:g.6000737_6000748del, NC_000006.12:g.6000738_6000748del, NC_000006.12:g.6000739_6000748del, NC_000006.12:g.6000740_6000748del, NC_000006.12:g.6000741_6000748del, NC_000006.12:g.6000742_6000748del, NC_000006.12:g.6000743_6000748del, NC_000006.12:g.6000744_6000748del, NC_000006.12:g.6000745_6000748del, NC_000006.12:g.6000746_6000748del, NC_000006.12:g.6000747_6000748del, NC_000006.12:g.6000748del, NC_000006.12:g.6000748dup, NC_000006.12:g.6000747_6000748dup, NC_000006.12:g.6000746_6000748dup, NC_000006.12:g.6000745_6000748dup, NC_000006.12:g.6000744_6000748dup, NC_000006.12:g.6000743_6000748dup, NC_000006.12:g.6000742_6000748dup, NC_000006.12:g.6000741_6000748dup, NC_000006.12:g.6000740_6000748dup, NC_000006.12:g.6000739_6000748dup, NC_000006.12:g.6000738_6000748dup, NC_000006.12:g.6000737_6000748dup, NC_000006.12:g.6000736_6000748dup, NC_000006.12:g.6000735_6000748dup, NC_000006.12:g.6000734_6000748dup, NC_000006.12:g.6000733_6000748dup, NC_000006.12:g.6000731_6000748dup, NC_000006.12:g.6000729_6000748dup, NC_000006.11:g.6000968_6000981del, NC_000006.11:g.6000969_6000981del, NC_000006.11:g.6000970_6000981del, NC_000006.11:g.6000971_6000981del, NC_000006.11:g.6000972_6000981del, NC_000006.11:g.6000973_6000981del, NC_000006.11:g.6000974_6000981del, NC_000006.11:g.6000975_6000981del, NC_000006.11:g.6000976_6000981del, NC_000006.11:g.6000977_6000981del, NC_000006.11:g.6000978_6000981del, NC_000006.11:g.6000979_6000981del, NC_000006.11:g.6000980_6000981del, NC_000006.11:g.6000981del, NC_000006.11:g.6000981dup, NC_000006.11:g.6000980_6000981dup, NC_000006.11:g.6000979_6000981dup, NC_000006.11:g.6000978_6000981dup, NC_000006.11:g.6000977_6000981dup, NC_000006.11:g.6000976_6000981dup, NC_000006.11:g.6000975_6000981dup, NC_000006.11:g.6000974_6000981dup, NC_000006.11:g.6000973_6000981dup, NC_000006.11:g.6000972_6000981dup, NC_000006.11:g.6000971_6000981dup, NC_000006.11:g.6000970_6000981dup, NC_000006.11:g.6000969_6000981dup, NC_000006.11:g.6000968_6000981dup, NC_000006.11:g.6000967_6000981dup, NC_000006.11:g.6000966_6000981dup, NC_000006.11:g.6000964_6000981dup, NC_000006.11:g.6000962_6000981dup

Select item 14909250018.

rs1490925001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:6008917 (GRCh38)
6:6009150 (GRCh37)
Canonical SPDI:: NC_000006.12:6008916:G:A
Gene:: NRN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.6008917G>A, NC_000006.11:g.6009150G>A

Select item 14907216769.

rs1490721676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:5998957 (GRCh38)
6:5999190 (GRCh37)
Canonical SPDI:: NC_000006.12:5998956:G:A
Gene:: NRN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.5998957G>A, NC_000006.11:g.5999190G>A, XM_006715106.4:c.*19C>T, XM_006715106.3:c.*19C>T, XM_006715106.2:c.*19C>T, XM_006715106.1:c.*19C>T, XM_006715107.4:c.*19C>T, XM_006715107.3:c.*19C>T, XM_006715107.2:c.*19C>T, XM_006715107.1:c.*19C>T, NM_016588.3:c.*19C>T, NM_016588.2:c.*19C>T, NM_001278711.2:c.*19C>T, NM_001278711.1:c.*19C>T, NM_001278710.2:c.*19C>T, NM_001278710.1:c.*19C>T

Select item 149021409110.

rs1490214091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:6004578 (GRCh38)
6:6004811 (GRCh37)
Canonical SPDI:: NC_000006.12:6004577:G:A
Gene:: NRN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.6004578G>A, NC_000006.11:g.6004811G>A

Select item 149011603211.

rs1490116032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:6008744 (GRCh38)
6:6008977 (GRCh37)
Canonical SPDI:: NC_000006.12:6008743:G:A
Gene:: NRN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.6008744G>A, NC_000006.11:g.6008977G>A

Select item 148959241212.

rs1489592412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:6005753 (GRCh38)
6:6005986 (GRCh37)
Canonical SPDI:: NC_000006.12:6005752:A:T
Gene:: NRN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000057/8 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.6005753A>T, NC_000006.11:g.6005986A>T

Select item 148941605113.

rs1489416051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:6002173 (GRCh38)
6:6002406 (GRCh37)
Canonical SPDI:: NC_000006.12:6002172:G:A
Gene:: NRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.6002173G>A, NC_000006.11:g.6002406G>A

Select item 148870370114.

rs1488703701 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:6008871 (GRCh38)
6:6009104 (GRCh37)
Canonical SPDI:: NC_000006.12:6008870:A:
Gene:: NRN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.6008871del, NC_000006.11:g.6009104del

Select item 148866642015.

rs1488666420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:6003350 (GRCh38)
6:6003583 (GRCh37)
Canonical SPDI:: NC_000006.12:6003349:A:G
Gene:: NRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.6003350A>G, NC_000006.11:g.6003583A>G

Select item 148830226116.

rs1488302261 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCCAAAGC [Show Flanks]
Chromosome:: 6:6003777 (GRCh38)
6:6004011 (GRCh37)
Canonical SPDI:: NC_000006.12:6003777:AGCGGCCCAAAGC:AGCGGCCCAAAGCGGCCCAAAGC
Gene:: NRN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCGGCCCAAAGCGGCCCAAAGC=0./0 (ALFA)
AGCGGCCCAA=0.000004/1 (TOPMED)
AGCGGCCCAA=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.6003781_6003790dup, NC_000006.11:g.6004014_6004023dup, XM_006715106.4:c.-57_-48dup, XM_006715106.3:c.-57_-48dup, XM_006715106.2:c.-57_-48dup, XM_006715106.1:c.-57_-48dup, XM_006715107.4:c.-57_-48dup, XM_006715107.3:c.-57_-48dup, XM_006715107.2:c.-57_-48dup, XM_006715107.1:c.-57_-48dup, NM_001278711.2:c.-57_-48dup, NM_001278711.1:c.-57_-48dup

Select item 148812686817.

rs1488126868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:6007323 (GRCh38)
6:6007556 (GRCh37)
Canonical SPDI:: NC_000006.12:6007322:C:T
Gene:: NRN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.6007323C>T, NC_000006.11:g.6007556C>T, NM_016588.2:c.-574G>A

Select item 148801325118.

rs1488013251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:6004959 (GRCh38)
6:6005192 (GRCh37)
Canonical SPDI:: NC_000006.12:6004958:T:C
Gene:: NRN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.6004959T>C, NC_000006.11:g.6005192T>C

Select item 148761555619.

rs1487615556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:6000010 (GRCh38)
6:6000243 (GRCh37)
Canonical SPDI:: NC_000006.12:6000009:C:T
Gene:: NRN1 (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_000006.12:g.6000010C>T, NC_000006.11:g.6000243C>T

Select item 148754775420.

rs1487547754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:6007188 (GRCh38)
6:6007421 (GRCh37)
Canonical SPDI:: NC_000006.12:6007187:G:A
Gene:: NRN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.6007188G>A, NC_000006.11:g.6007421G>A, NM_016588.2:c.-439C>T

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