SNP Links for Gene (Select 51720) - SNP

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Select item 14915730931.

rs1491573093 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:176933527 (GRCh38)
5:176360528 (GRCh37)
Canonical SPDI:: NC_000005.10:176933526:AT:
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.176933527_176933528del, NC_000005.9:g.176360528_176360529del

Select item 14915131892.

rs1491513189 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:176997684 (GRCh38)
5:176424685 (GRCh37)
Canonical SPDI:: NC_000005.10:176997683:CA:
Gene:: UIMC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02209/262 (ALFA)
-=0.00425/120 (TOMMO)
HGVS:: NC_000005.10:g.176997684_176997685del, NC_000005.9:g.176424685_176424686del

Select item 14915098963.

rs1491509896 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:176970271 (GRCh38)
5:176397272 (GRCh37)
Canonical SPDI:: NC_000005.10:176970270:CA:
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.176970271_176970272del, NC_000005.9:g.176397272_176397273del

Select item 14914915094.

rs1491491509 has merged into rs57976266 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:176970283 (GRCh38)
5:176397284 (GRCh37)
Canonical SPDI:: NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176970271:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000005.10:g.176970283_176970295del, NC_000005.10:g.176970284_176970295del, NC_000005.10:g.176970285_176970295del, NC_000005.10:g.176970286_176970295del, NC_000005.10:g.176970287_176970295del, NC_000005.10:g.176970288_176970295del, NC_000005.10:g.176970289_176970295del, NC_000005.10:g.176970290_176970295del, NC_000005.10:g.176970291_176970295del, NC_000005.10:g.176970292_176970295del, NC_000005.10:g.176970293_176970295del, NC_000005.10:g.176970294_176970295del, NC_000005.10:g.176970295del, NC_000005.10:g.176970295dup, NC_000005.10:g.176970294_176970295dup, NC_000005.10:g.176970293_176970295dup, NC_000005.10:g.176970291_176970295dup, NC_000005.10:g.176970290_176970295dup, NC_000005.9:g.176397284_176397296del, NC_000005.9:g.176397285_176397296del, NC_000005.9:g.176397286_176397296del, NC_000005.9:g.176397287_176397296del, NC_000005.9:g.176397288_176397296del, NC_000005.9:g.176397289_176397296del, NC_000005.9:g.176397290_176397296del, NC_000005.9:g.176397291_176397296del, NC_000005.9:g.176397292_176397296del, NC_000005.9:g.176397293_176397296del, NC_000005.9:g.176397294_176397296del, NC_000005.9:g.176397295_176397296del, NC_000005.9:g.176397296del, NC_000005.9:g.176397296dup, NC_000005.9:g.176397295_176397296dup, NC_000005.9:g.176397294_176397296dup, NC_000005.9:g.176397292_176397296dup, NC_000005.9:g.176397291_176397296dup

Select item 14914728565.

rs1491472856 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:176923928 (GRCh38)
5:176350929 (GRCh37)
Canonical SPDI:: NC_000005.10:176923926:AGA:A
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
-=0.000015/2 (GnomAD)
-=0.037623/145 (ALSPAC)
-=0.067152/249 (TWINSUK)
HGVS:: NC_000005.10:g.176923928_176923929del, NC_000005.9:g.176350929_176350930del

Select item 14914715536.

rs1491471553 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:176911101 (GRCh38)
5:176338103 (GRCh37)
Canonical SPDI:: NC_000005.10:176911101::T
Gene:: UIMC1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.176911101_176911102insT, NC_000005.9:g.176338102_176338103insT

Select item 14914355407.

rs1491435540 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:176997141 (GRCh38)
5:176424143 (GRCh37)
Canonical SPDI:: NC_000005.10:176997141::A
Gene:: UIMC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00028/4 (ALFA)
A=0.00142/66 (GnomAD)
HGVS:: NC_000005.10:g.176997141_176997142insA, NC_000005.9:g.176424142_176424143insA

Select item 14914322608.

rs1491432260 has merged into rs11333768 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:176933537 (GRCh38)
5:176360538 (GRCh37)
Canonical SPDI:: NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176933527:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4089/2048 (1000Genomes)
-=0.4477/1660 (TWINSUK)
-=0.4525/1744 (ALSPAC)
HGVS:: NC_000005.10:g.176933537_176933540del, NC_000005.10:g.176933539_176933540del, NC_000005.10:g.176933540del, NC_000005.10:g.176933540dup, NC_000005.10:g.176933539_176933540dup, NC_000005.10:g.176933538_176933540dup, NC_000005.10:g.176933537_176933540dup, NC_000005.10:g.176933536_176933540dup, NC_000005.10:g.176933535_176933540dup, NC_000005.10:g.176933533_176933540dup, NC_000005.10:g.176933528_176933540dup, NC_000005.9:g.176360538_176360541del, NC_000005.9:g.176360540_176360541del, NC_000005.9:g.176360541del, NC_000005.9:g.176360541dup, NC_000005.9:g.176360540_176360541dup, NC_000005.9:g.176360539_176360541dup, NC_000005.9:g.176360538_176360541dup, NC_000005.9:g.176360537_176360541dup, NC_000005.9:g.176360536_176360541dup, NC_000005.9:g.176360534_176360541dup, NC_000005.9:g.176360529_176360541dup

Select item 14914151939.

rs1491415193 has merged into rs35059681 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:176988140 (GRCh38)
5:176415141 (GRCh37)
Canonical SPDI:: NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.440096/2204 (1000Genomes)
HGVS:: NC_000005.10:g.176988140_176988151del, NC_000005.10:g.176988141_176988151del, NC_000005.10:g.176988142_176988151del, NC_000005.10:g.176988145_176988151del, NC_000005.10:g.176988146_176988151del, NC_000005.10:g.176988147_176988151del, NC_000005.10:g.176988148_176988151del, NC_000005.10:g.176988149_176988151del, NC_000005.10:g.176988150_176988151del, NC_000005.10:g.176988151del, NC_000005.10:g.176988151dup, NC_000005.10:g.176988150_176988151dup, NC_000005.10:g.176988149_176988151dup, NC_000005.10:g.176988148_176988151dup, NC_000005.10:g.176988147_176988151dup, NC_000005.9:g.176415141_176415152del, NC_000005.9:g.176415142_176415152del, NC_000005.9:g.176415143_176415152del, NC_000005.9:g.176415146_176415152del, NC_000005.9:g.176415147_176415152del, NC_000005.9:g.176415148_176415152del, NC_000005.9:g.176415149_176415152del, NC_000005.9:g.176415150_176415152del, NC_000005.9:g.176415151_176415152del, NC_000005.9:g.176415152del, NC_000005.9:g.176415152dup, NC_000005.9:g.176415151_176415152dup, NC_000005.9:g.176415150_176415152dup, NC_000005.9:g.176415149_176415152dup, NC_000005.9:g.176415148_176415152dup

Select item 149140570210.

rs1491405702 has merged into rs1180802848 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 5:176977250 (GRCh38)
5:176404251 (GRCh37)
Canonical SPDI:: NC_000005.10:176977240:AGAGAGAGAGAGA:AGAGAGAGA,NC_000005.10:176977240:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000005.10:176977240:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.176977242GA[4], NC_000005.10:g.176977242GA[5], NC_000005.10:g.176977242GA[7], NC_000005.9:g.176404243GA[4], NC_000005.9:g.176404243GA[5], NC_000005.9:g.176404243GA[7]

Select item 149139601011.

rs1491396010 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:176988130 (GRCh38)
5:176415131 (GRCh37)
Canonical SPDI:: NC_000005.10:176988129:CA:
Gene:: UIMC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0118/140 (ALFA)
-=0.00579/96 (TOMMO)
-=0.00639/342 (GnomAD)
HGVS:: NC_000005.10:g.176988130_176988131del, NC_000005.9:g.176415131_176415132del

Select item 149137901812.

rs1491379018 has merged into rs1054828052 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA [Show Flanks]
Chromosome:: 5:176911108 (GRCh38)
5:176338109 (GRCh37)
Canonical SPDI:: NC_000005.10:176911100:AGAGAGAGAGAGA:AGAGAGA,NC_000005.10:176911100:AGAGAGAGAGAGA:AGAGAGAGA,NC_000005.10:176911100:AGAGAGAGAGAGA:AGAGAGAGAGA
Gene:: UIMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
-=0.00018/3 (TOMMO)
HGVS:: NC_000005.10:g.176911102GA[3], NC_000005.10:g.176911102GA[4], NC_000005.10:g.176911102GA[5], NC_000005.9:g.176338103GA[3], NC_000005.9:g.176338103GA[4], NC_000005.9:g.176338103GA[5]

Select item 149136368013.

rs1491363680 has merged into rs367851922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 5:177019642 (GRCh38)
5:176446643 (GRCh37)
Canonical SPDI:: NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177019627:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2829/1417 (1000Genomes)
HGVS:: NC_000005.10:g.177019642_177019644del, NC_000005.10:g.177019643_177019644del, NC_000005.10:g.177019644del, NC_000005.10:g.177019644dup, NC_000005.10:g.177019643_177019644dup, NC_000005.10:g.177019642_177019644dup, NC_000005.10:g.177019641_177019644dup, NC_000005.10:g.177019640_177019644dup, NC_000005.10:g.177019638_177019644dup, NC_000005.9:g.176446643_176446645del, NC_000005.9:g.176446644_176446645del, NC_000005.9:g.176446645del, NC_000005.9:g.176446645dup, NC_000005.9:g.176446644_176446645dup, NC_000005.9:g.176446643_176446645dup, NC_000005.9:g.176446642_176446645dup, NC_000005.9:g.176446641_176446645dup, NC_000005.9:g.176446639_176446645dup

Select item 149135371014.

rs1491353710 has merged into rs374892150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:176923871 (GRCh38)
5:176350872 (GRCh37)
Canonical SPDI:: NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAA,NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAAA,NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:176923863:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
-=0.029396/109 (TWINSUK)
-=0.035547/137 (ALSPAC)
HGVS:: NC_000005.10:g.176923871_176923875del, NC_000005.10:g.176923872_176923875del, NC_000005.10:g.176923873_176923875del, NC_000005.10:g.176923874_176923875del, NC_000005.10:g.176923875del, NC_000005.10:g.176923875dup, NC_000005.10:g.176923874_176923875dup, NC_000005.9:g.176350872_176350876del, NC_000005.9:g.176350873_176350876del, NC_000005.9:g.176350874_176350876del, NC_000005.9:g.176350875_176350876del, NC_000005.9:g.176350876del, NC_000005.9:g.176350876dup, NC_000005.9:g.176350875_176350876dup

Select item 149131359415.

rs1491313594 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:176912473 (GRCh38)
5:176339475 (GRCh37)
Canonical SPDI:: NC_000005.10:176912473:G:GG
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.0008/53 (GnomAD)
HGVS:: NC_000005.10:g.176912474dup, NC_000005.9:g.176339475dup

Select item 149130959616.

rs1491309596 [Homo sapiens]

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

Select item 149128862017.

rs1491288620 has merged into rs58297107 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAACGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAGACACAAAGGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAGAACAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:176915803 (GRCh38)
5:176342804 (GRCh37)
Canonical SPDI:: NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAGACACAAAGGAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAGAACAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:176915793:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.440495/2206 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000005.10:g.176915803_176915814del, NC_000005.10:g.176915804_176915814del, NC_000005.10:g.176915805_176915814del, NC_000005.10:g.176915806_176915814del, NC_000005.10:g.176915808_176915814del, NC_000005.10:g.176915809_176915814del, NC_000005.10:g.176915810_176915814del, NC_000005.10:g.176915811_176915814del, NC_000005.10:g.176915812_176915814del, NC_000005.10:g.176915813_176915814del, NC_000005.10:g.176915814del, NC_000005.10:g.176915814dup, NC_000005.10:g.176915813_176915814dup, NC_000005.10:g.176915812_176915814dup, NC_000005.10:g.176915811_176915814dup, NC_000005.10:g.176915810_176915814dup, NC_000005.10:g.176915809_176915814dup, NC_000005.10:g.176915808_176915814dup, NC_000005.10:g.176915807_176915814dup, NC_000005.10:g.176915806_176915814dup, NC_000005.10:g.176915805_176915814dup, NC_000005.10:g.176915804_176915814dup, NC_000005.10:g.176915803_176915814dup, NC_000005.10:g.176915802_176915814dup, NC_000005.10:g.176915801_176915814dup, NC_000005.10:g.176915800_176915814dup, NC_000005.10:g.176915798_176915814dup, NC_000005.10:g.176915797_176915814dup, NC_000005.10:g.176915796_176915814dup, NC_000005.10:g.176915814_176915815insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.176915814_176915815insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.176915814_176915815insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.176915814_176915815insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.176915794_176915814A[36]CGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[32]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[23]CAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[22]CAAAAAAAAAGACACAAAGGAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[22]CAAAAAAAAGAACAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.176915794_176915814A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342804_176342815del, NC_000005.9:g.176342805_176342815del, NC_000005.9:g.176342806_176342815del, NC_000005.9:g.176342807_176342815del, NC_000005.9:g.176342809_176342815del, NC_000005.9:g.176342810_176342815del, NC_000005.9:g.176342811_176342815del, NC_000005.9:g.176342812_176342815del, NC_000005.9:g.176342813_176342815del, NC_000005.9:g.176342814_176342815del, NC_000005.9:g.176342815del, NC_000005.9:g.176342815dup, NC_000005.9:g.176342814_176342815dup, NC_000005.9:g.176342813_176342815dup, NC_000005.9:g.176342812_176342815dup, NC_000005.9:g.176342811_176342815dup, NC_000005.9:g.176342810_176342815dup, NC_000005.9:g.176342809_176342815dup, NC_000005.9:g.176342808_176342815dup, NC_000005.9:g.176342807_176342815dup, NC_000005.9:g.176342806_176342815dup, NC_000005.9:g.176342805_176342815dup, NC_000005.9:g.176342804_176342815dup, NC_000005.9:g.176342803_176342815dup, NC_000005.9:g.176342802_176342815dup, NC_000005.9:g.176342801_176342815dup, NC_000005.9:g.176342799_176342815dup, NC_000005.9:g.176342798_176342815dup, NC_000005.9:g.176342797_176342815dup, NC_000005.9:g.176342815_176342816insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.176342815_176342816insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.176342815_176342816insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.176342815_176342816insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.176342795_176342815A[36]CGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[32]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[23]CAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[22]CAAAAAAAAAGACACAAAGGAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[22]CAAAAAAAAGAACAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.176342795_176342815A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149128670718.

rs1491286707 has merged into rs1030144780 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:176963519 (GRCh38)
5:176390520 (GRCh37)
Canonical SPDI:: NC_000005.10:176963518:TTT:TT,NC_000005.10:176963518:TTT:TTTT
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.176963521del, NC_000005.10:g.176963521dup, NC_000005.9:g.176390522del, NC_000005.9:g.176390522dup

Select item 149128183719.

rs1491281837 has merged into rs35583665 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:176923914 (GRCh38)
5:176350915 (GRCh37)
Canonical SPDI:: NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:176923900:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA
Gene:: UIMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000005.10:g.176923902CA[6], NC_000005.10:g.176923902CA[7], NC_000005.10:g.176923902CA[8], NC_000005.10:g.176923902CA[9], NC_000005.10:g.176923902CA[10], NC_000005.10:g.176923902CA[11], NC_000005.10:g.176923902CA[12], NC_000005.10:g.176923902CA[14], NC_000005.10:g.176923902CA[15], NC_000005.10:g.176923902CA[16], NC_000005.10:g.176923902CA[17], NC_000005.10:g.176923902CA[18], NC_000005.10:g.176923902CA[19], NC_000005.10:g.176923902CA[20], NC_000005.9:g.176350903CA[6], NC_000005.9:g.176350903CA[7], NC_000005.9:g.176350903CA[8], NC_000005.9:g.176350903CA[9], NC_000005.9:g.176350903CA[10], NC_000005.9:g.176350903CA[11], NC_000005.9:g.176350903CA[12], NC_000005.9:g.176350903CA[14], NC_000005.9:g.176350903CA[15], NC_000005.9:g.176350903CA[16], NC_000005.9:g.176350903CA[17], NC_000005.9:g.176350903CA[18], NC_000005.9:g.176350903CA[19], NC_000005.9:g.176350903CA[20]

Select item 149127524520.

rs1491275245 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 5:176985457 (GRCh38)
5:176412459 (GRCh37)
Canonical SPDI:: NC_000005.10:176985457:A:ACA
Gene:: UIMC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000005.10:g.176985458_176985459insCA, NC_000005.9:g.176412459_176412460insCA

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