SNP Links for Gene (Select 58478) - SNP

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Select item 14915495951.

rs1491549595 [Homo sapiens]

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

Select item 14915361162.

rs1491536116 has merged into rs1175624219 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:82446701 (GRCh38)
4:83367854 (GRCh37)
Canonical SPDI:: NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.82446701_82446717del, NC_000004.12:g.82446702_82446717del, NC_000004.12:g.82446703_82446717del, NC_000004.12:g.82446704_82446717del, NC_000004.12:g.82446705_82446717del, NC_000004.12:g.82446706_82446717del, NC_000004.12:g.82446707_82446717del, NC_000004.12:g.82446709_82446717del, NC_000004.12:g.82446710_82446717del, NC_000004.12:g.82446711_82446717del, NC_000004.12:g.82446712_82446717del, NC_000004.12:g.82446715_82446717del, NC_000004.12:g.82446716_82446717del, NC_000004.12:g.82446717del, NC_000004.12:g.82446717dup, NC_000004.12:g.82446716_82446717dup, NC_000004.12:g.82446715_82446717dup, NC_000004.12:g.82446714_82446717dup, NC_000004.12:g.82446713_82446717dup, NC_000004.12:g.82446712_82446717dup, NC_000004.12:g.82446711_82446717dup, NC_000004.12:g.82446710_82446717dup, NC_000004.12:g.82446709_82446717dup, NC_000004.11:g.83367854_83367870del, NC_000004.11:g.83367855_83367870del, NC_000004.11:g.83367856_83367870del, NC_000004.11:g.83367857_83367870del, NC_000004.11:g.83367858_83367870del, NC_000004.11:g.83367859_83367870del, NC_000004.11:g.83367860_83367870del, NC_000004.11:g.83367862_83367870del, NC_000004.11:g.83367863_83367870del, NC_000004.11:g.83367864_83367870del, NC_000004.11:g.83367865_83367870del, NC_000004.11:g.83367868_83367870del, NC_000004.11:g.83367869_83367870del, NC_000004.11:g.83367870del, NC_000004.11:g.83367870dup, NC_000004.11:g.83367869_83367870dup, NC_000004.11:g.83367868_83367870dup, NC_000004.11:g.83367867_83367870dup, NC_000004.11:g.83367866_83367870dup, NC_000004.11:g.83367865_83367870dup, NC_000004.11:g.83367864_83367870dup, NC_000004.11:g.83367863_83367870dup, NC_000004.11:g.83367862_83367870dup

Select item 14915083453.

rs1491508345 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:82449248 (GRCh38)
4:83370402 (GRCh37)
Canonical SPDI:: NC_000004.12:82449248::C
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82449248_82449249insC, NC_000004.11:g.83370401_83370402insC

Select item 14914983544.

rs1491498354 has merged into rs10604951 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:82449067 (GRCh38)
4:83370220 (GRCh37)
Canonical SPDI:: NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82449057:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000004.12:g.82449067_82449081del, NC_000004.12:g.82449068_82449081del, NC_000004.12:g.82449069_82449081del, NC_000004.12:g.82449071_82449081del, NC_000004.12:g.82449072_82449081del, NC_000004.12:g.82449073_82449081del, NC_000004.12:g.82449074_82449081del, NC_000004.12:g.82449075_82449081del, NC_000004.12:g.82449076_82449081del, NC_000004.12:g.82449077_82449081del, NC_000004.12:g.82449078_82449081del, NC_000004.12:g.82449079_82449081del, NC_000004.12:g.82449080_82449081del, NC_000004.12:g.82449081del, NC_000004.12:g.82449081dup, NC_000004.12:g.82449080_82449081dup, NC_000004.12:g.82449079_82449081dup, NC_000004.12:g.82449078_82449081dup, NC_000004.12:g.82449077_82449081dup, NC_000004.12:g.82449076_82449081dup, NC_000004.12:g.82449075_82449081dup, NC_000004.12:g.82449074_82449081dup, NC_000004.12:g.82449073_82449081dup, NC_000004.12:g.82449072_82449081dup, NC_000004.11:g.83370220_83370234del, NC_000004.11:g.83370221_83370234del, NC_000004.11:g.83370222_83370234del, NC_000004.11:g.83370224_83370234del, NC_000004.11:g.83370225_83370234del, NC_000004.11:g.83370226_83370234del, NC_000004.11:g.83370227_83370234del, NC_000004.11:g.83370228_83370234del, NC_000004.11:g.83370229_83370234del, NC_000004.11:g.83370230_83370234del, NC_000004.11:g.83370231_83370234del, NC_000004.11:g.83370232_83370234del, NC_000004.11:g.83370233_83370234del, NC_000004.11:g.83370234del, NC_000004.11:g.83370234dup, NC_000004.11:g.83370233_83370234dup, NC_000004.11:g.83370232_83370234dup, NC_000004.11:g.83370231_83370234dup, NC_000004.11:g.83370230_83370234dup, NC_000004.11:g.83370229_83370234dup, NC_000004.11:g.83370228_83370234dup, NC_000004.11:g.83370227_83370234dup, NC_000004.11:g.83370226_83370234dup, NC_000004.11:g.83370225_83370234dup

Select item 14914295755.

rs1491429575 [Homo sapiens]

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

Select item 14912125916.

rs1491212591 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:82449057 (GRCh38)
4:83370210 (GRCh37)
Canonical SPDI:: NC_000004.12:82449056:CA:
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00152/18 (ALFA)
HGVS:: NC_000004.12:g.82449057_82449058del, NC_000004.11:g.83370210_83370211del

Select item 14911358897.

rs1491135889 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:82446434 (GRCh38)
4:83367587 (GRCh37)
Canonical SPDI:: NC_000004.12:82446432:AGA:A
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.82446434_82446435del, NC_000004.11:g.83367587_83367588del

Select item 14910097108.

rs1491009710 has merged into rs35557585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:82436698 (GRCh38)
4:83357851 (GRCh37)
Canonical SPDI:: NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82436686:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.03356/20 (NorthernSweden)
-=0.14097/706 (1000Genomes)
HGVS:: NC_000004.12:g.82436698_82436704del, NC_000004.12:g.82436700_82436704del, NC_000004.12:g.82436701_82436704del, NC_000004.12:g.82436702_82436704del, NC_000004.12:g.82436703_82436704del, NC_000004.12:g.82436704del, NC_000004.12:g.82436704dup, NC_000004.12:g.82436703_82436704dup, NC_000004.12:g.82436702_82436704dup, NC_000004.12:g.82436701_82436704dup, NC_000004.12:g.82436700_82436704dup, NC_000004.12:g.82436694_82436704dup, NC_000004.11:g.83357851_83357857del, NC_000004.11:g.83357853_83357857del, NC_000004.11:g.83357854_83357857del, NC_000004.11:g.83357855_83357857del, NC_000004.11:g.83357856_83357857del, NC_000004.11:g.83357857del, NC_000004.11:g.83357857dup, NC_000004.11:g.83357856_83357857dup, NC_000004.11:g.83357855_83357857dup, NC_000004.11:g.83357854_83357857dup, NC_000004.11:g.83357853_83357857dup, NC_000004.11:g.83357847_83357857dup

Select item 14909456439.

rs1490945643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:82460695 (GRCh38)
4:83381848 (GRCh37)
Canonical SPDI:: NC_000004.12:82460694:C:A
Gene:: ENOPH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82460695C>A, NC_000004.11:g.83381848C>A, NM_021204.5:c.*575C>A, NM_021204.4:c.*575C>A, NM_021204.3:c.*575C>A, NM_001292017.2:c.*575C>A, NM_001292017.1:c.*575C>A, NR_120457.2:n.1369C>A, NR_120457.1:n.1479C>A

Select item 149070417910.

rs1490704179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82430566 (GRCh38)
4:83351719 (GRCh37)
Canonical SPDI:: NC_000004.12:82430565:G:A
Gene:: HNRNPDL (Varview), ENOPH1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82430566G>A, NC_000004.11:g.83351719G>A, NG_029681.1:g.4660C>T, NM_021204.4:c.-264G>A, NM_001292017.1:c.-499G>A, NR_120457.1:n.87G>A

Select item 149069292711.

rs1490692927 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:82445342 (GRCh38)
4:83366495 (GRCh37)
Canonical SPDI:: NC_000004.12:82445341:G:
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82445342del, NC_000004.11:g.83366495del

Select item 149066755712.

rs1490667557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:82438331 (GRCh38)
4:83359484 (GRCh37)
Canonical SPDI:: NC_000004.12:82438330:G:T
Gene:: ENOPH1 (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.82438331G>T, NC_000004.11:g.83359484G>T

Select item 149063036913.

rs1490630369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:82437207 (GRCh38)
4:83358360 (GRCh37)
Canonical SPDI:: NC_000004.12:82437206:C:T
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82437207C>T, NC_000004.11:g.83358360C>T

Select item 149040627214.

rs1490406272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82446800 (GRCh38)
4:83367953 (GRCh37)
Canonical SPDI:: NC_000004.12:82446799:G:A
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000087/23 (TOPMED)
A=0.000089/12 (GnomAD)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000004.12:g.82446800G>A, NC_000004.11:g.83367953G>A

Select item 149037618115.

rs1490376181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:82448885 (GRCh38)
4:83370038 (GRCh37)
Canonical SPDI:: NC_000004.12:82448884:C:T
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000058/8 (GnomAD)
HGVS:: NC_000004.12:g.82448885C>T, NC_000004.11:g.83370038C>T

Select item 149027741716.

rs1490277417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:82439299 (GRCh38)
4:83360452 (GRCh37)
Canonical SPDI:: NC_000004.12:82439298:G:A,NC_000004.12:82439298:G:T
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82439299G>A, NC_000004.12:g.82439299G>T, NC_000004.11:g.83360452G>A, NC_000004.11:g.83360452G>T

Select item 149011188417.

rs1490111884 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 4:82459934 (GRCh38)
4:83381087 (GRCh37)
Canonical SPDI:: NC_000004.12:82459930:CATCAT:CAT
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82459931CAT[1], NC_000004.11:g.83381084CAT[1]

Select item 148990930318.

rs1489909303 has merged into rs1175624219 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:82446701 (GRCh38)
4:83367854 (GRCh37)
Canonical SPDI:: NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:82446689:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.82446701_82446717del, NC_000004.12:g.82446702_82446717del, NC_000004.12:g.82446703_82446717del, NC_000004.12:g.82446704_82446717del, NC_000004.12:g.82446705_82446717del, NC_000004.12:g.82446706_82446717del, NC_000004.12:g.82446707_82446717del, NC_000004.12:g.82446709_82446717del, NC_000004.12:g.82446710_82446717del, NC_000004.12:g.82446711_82446717del, NC_000004.12:g.82446712_82446717del, NC_000004.12:g.82446715_82446717del, NC_000004.12:g.82446716_82446717del, NC_000004.12:g.82446717del, NC_000004.12:g.82446717dup, NC_000004.12:g.82446716_82446717dup, NC_000004.12:g.82446715_82446717dup, NC_000004.12:g.82446714_82446717dup, NC_000004.12:g.82446713_82446717dup, NC_000004.12:g.82446712_82446717dup, NC_000004.12:g.82446711_82446717dup, NC_000004.12:g.82446710_82446717dup, NC_000004.12:g.82446709_82446717dup, NC_000004.11:g.83367854_83367870del, NC_000004.11:g.83367855_83367870del, NC_000004.11:g.83367856_83367870del, NC_000004.11:g.83367857_83367870del, NC_000004.11:g.83367858_83367870del, NC_000004.11:g.83367859_83367870del, NC_000004.11:g.83367860_83367870del, NC_000004.11:g.83367862_83367870del, NC_000004.11:g.83367863_83367870del, NC_000004.11:g.83367864_83367870del, NC_000004.11:g.83367865_83367870del, NC_000004.11:g.83367868_83367870del, NC_000004.11:g.83367869_83367870del, NC_000004.11:g.83367870del, NC_000004.11:g.83367870dup, NC_000004.11:g.83367869_83367870dup, NC_000004.11:g.83367868_83367870dup, NC_000004.11:g.83367867_83367870dup, NC_000004.11:g.83367866_83367870dup, NC_000004.11:g.83367865_83367870dup, NC_000004.11:g.83367864_83367870dup, NC_000004.11:g.83367863_83367870dup, NC_000004.11:g.83367862_83367870dup

Select item 148987673819.

rs1489876738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:82445910 (GRCh38)
4:83367063 (GRCh37)
Canonical SPDI:: NC_000004.12:82445909:A:G
Gene:: ENOPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82445910A>G, NC_000004.11:g.83367063A>G

Select item 148984976420.

rs1489849764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82438851 (GRCh38)
4:83360004 (GRCh37)
Canonical SPDI:: NC_000004.12:82438850:G:A
Gene:: ENOPH1 (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.82438851G>A, NC_000004.11:g.83360004G>A

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