SNP Links for Nucleotide (Select 211904116) - SNP

Links from Nucleotide

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Select item 14915842581.

rs1491584258 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:78132833 (GRCh38)
11:77843879 (GRCh37)
Canonical SPDI:: NC_000011.10:78132832:AT:
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0002/20 (GnomAD)
HGVS:: NC_000011.10:g.78132833_78132834del, NC_000011.9:g.77843879_77843880del, NG_008926.1:g.11820_11821del

Select item 14915670202.

rs1491567020 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78118615 (GRCh38)
11:77829661 (GRCh37)
Canonical SPDI:: NC_000011.10:78118614:CA:
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.78118615_78118616del, NC_000011.9:g.77829661_77829662del, NG_008926.1:g.26038_26039del

Select item 14915609493.

rs1491560949 has merged into rs35218171 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:78102965 (GRCh38)
11:77814011 (GRCh37)
Canonical SPDI:: NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78102951:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3812/1909 (1000Genomes)
HGVS:: NC_000011.10:g.78102965_78102969del, NC_000011.10:g.78102966_78102969del, NC_000011.10:g.78102967_78102969del, NC_000011.10:g.78102968_78102969del, NC_000011.10:g.78102969del, NC_000011.10:g.78102969dup, NC_000011.10:g.78102968_78102969dup, NC_000011.10:g.78102962_78102969dup, NC_000011.10:g.78102959_78102969dup, NC_000011.9:g.77814011_77814015del, NC_000011.9:g.77814012_77814015del, NC_000011.9:g.77814013_77814015del, NC_000011.9:g.77814014_77814015del, NC_000011.9:g.77814015del, NC_000011.9:g.77814015dup, NC_000011.9:g.77814014_77814015dup, NC_000011.9:g.77814008_77814015dup, NC_000011.9:g.77814005_77814015dup, NG_008926.1:g.41698_41702del, NG_008926.1:g.41699_41702del, NG_008926.1:g.41700_41702del, NG_008926.1:g.41701_41702del, NG_008926.1:g.41702del, NG_008926.1:g.41702dup, NG_008926.1:g.41701_41702dup, NG_008926.1:g.41695_41702dup, NG_008926.1:g.41692_41702dup

Select item 14915561204.

rs1491556120 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78113722 (GRCh38)
11:77824768 (GRCh37)
Canonical SPDI:: NC_000011.10:78113720:ACA:A
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00066/13 (GnomAD)
AC=0.23922/1198 (1000Genomes)
HGVS:: NC_000011.10:g.78113722_78113723del, NC_000011.9:g.77824768_77824769del, NG_008926.1:g.30932_30933del

Select item 14915527515.

rs1491552751 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:78143317 (GRCh38)
11:77854363 (GRCh37)
Canonical SPDI:: NC_000011.10:78143315:AAA:A
Gene:: KCTD21-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00023/9 (GnomAD)
HGVS:: NC_000011.10:g.78143317_78143318del, NC_000011.9:g.77854363_77854364del, NG_008926.1:g.1337_1338del

Select item 14914572046.

rs1491457204 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:78143316 (GRCh38)
11:77854363 (GRCh37)
Canonical SPDI:: NC_000011.10:78143316::C
Gene:: KCTD21-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000896/4 (ALFA)
C=0.000312/2 (1000Genomes)
C=0.00062/71 (GnomAD)
HGVS:: NC_000011.10:g.78143316_78143317insC, NC_000011.9:g.77854362_77854363insC, NG_008926.1:g.1337_1338insG

Select item 14914469667.

rs1491446966 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 11:78132833 (GRCh38)
11:77843880 (GRCh37)
Canonical SPDI:: NC_000011.10:78132833::CT
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
CT=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.78132833_78132834insCT, NC_000011.9:g.77843879_77843880insCT, NG_008926.1:g.11820_11821insAG

Select item 14914025768.

rs1491402576 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78102951 (GRCh38)
11:77813997 (GRCh37)
Canonical SPDI:: NC_000011.10:78102950:CA:
Gene:: ALG8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.78102951_78102952del, NC_000011.9:g.77813997_77813998del, NG_008926.1:g.41702_41703del

Select item 14913853569.

rs1491385356 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78129419 (GRCh38)
11:77840465 (GRCh37)
Canonical SPDI:: NC_000011.10:78129418:CA:
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.78129419_78129420del, NC_000011.9:g.77840465_77840466del, NG_008926.1:g.15234_15235del

Select item 149137811010.

rs1491378110 has merged into rs59453362 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:78107850 (GRCh38)
11:77818896 (GRCh37)
Canonical SPDI:: NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78107839:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.472222/17 (GENOME_DK)
HGVS:: NC_000011.10:g.78107850_78107862del, NC_000011.10:g.78107852_78107862del, NC_000011.10:g.78107853_78107862del, NC_000011.10:g.78107854_78107862del, NC_000011.10:g.78107856_78107862del, NC_000011.10:g.78107857_78107862del, NC_000011.10:g.78107858_78107862del, NC_000011.10:g.78107859_78107862del, NC_000011.10:g.78107860_78107862del, NC_000011.10:g.78107861_78107862del, NC_000011.10:g.78107862del, NC_000011.10:g.78107862dup, NC_000011.10:g.78107861_78107862dup, NC_000011.10:g.78107860_78107862dup, NC_000011.10:g.78107858_78107862dup, NC_000011.10:g.78107857_78107862dup, NC_000011.10:g.78107862_78107863insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.77818896_77818908del, NC_000011.9:g.77818898_77818908del, NC_000011.9:g.77818899_77818908del, NC_000011.9:g.77818900_77818908del, NC_000011.9:g.77818902_77818908del, NC_000011.9:g.77818903_77818908del, NC_000011.9:g.77818904_77818908del, NC_000011.9:g.77818905_77818908del, NC_000011.9:g.77818906_77818908del, NC_000011.9:g.77818907_77818908del, NC_000011.9:g.77818908del, NC_000011.9:g.77818908dup, NC_000011.9:g.77818907_77818908dup, NC_000011.9:g.77818906_77818908dup, NC_000011.9:g.77818904_77818908dup, NC_000011.9:g.77818903_77818908dup, NC_000011.9:g.77818908_77818909insAAAAAAAAAAAAAAAAAAAAAAAA, NG_008926.1:g.36802_36814del, NG_008926.1:g.36804_36814del, NG_008926.1:g.36805_36814del, NG_008926.1:g.36806_36814del, NG_008926.1:g.36808_36814del, NG_008926.1:g.36809_36814del, NG_008926.1:g.36810_36814del, NG_008926.1:g.36811_36814del, NG_008926.1:g.36812_36814del, NG_008926.1:g.36813_36814del, NG_008926.1:g.36814del, NG_008926.1:g.36814dup, NG_008926.1:g.36813_36814dup, NG_008926.1:g.36812_36814dup, NG_008926.1:g.36810_36814dup, NG_008926.1:g.36809_36814dup, NG_008926.1:g.36814_36815insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149135192511.

rs1491351925 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:78111782 (GRCh38)
11:77822828 (GRCh37)
Canonical SPDI:: NC_000011.10:78111778:TGTGT:TGT
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.78111780GT[1], NC_000011.9:g.77822826GT[1], NG_008926.1:g.32872CA[1]

Select item 149134210812.

rs1491342108 has merged into rs60253317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:78118628 (GRCh38)
11:77829674 (GRCh37)
Canonical SPDI:: NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.3381/1693 (1000Genomes)
HGVS:: NC_000011.10:g.78118628_78118637del, NC_000011.10:g.78118629_78118637del, NC_000011.10:g.78118631_78118637del, NC_000011.10:g.78118633_78118637del, NC_000011.10:g.78118634_78118637del, NC_000011.10:g.78118635_78118637del, NC_000011.10:g.78118636_78118637del, NC_000011.10:g.78118637del, NC_000011.10:g.78118637dup, NC_000011.10:g.78118636_78118637dup, NC_000011.10:g.78118635_78118637dup, NC_000011.10:g.78118634_78118637dup, NC_000011.10:g.78118633_78118637dup, NC_000011.10:g.78118632_78118637dup, NC_000011.10:g.78118630_78118637dup, NC_000011.10:g.78118628_78118637dup, NC_000011.9:g.77829674_77829683del, NC_000011.9:g.77829675_77829683del, NC_000011.9:g.77829677_77829683del, NC_000011.9:g.77829679_77829683del, NC_000011.9:g.77829680_77829683del, NC_000011.9:g.77829681_77829683del, NC_000011.9:g.77829682_77829683del, NC_000011.9:g.77829683del, NC_000011.9:g.77829683dup, NC_000011.9:g.77829682_77829683dup, NC_000011.9:g.77829681_77829683dup, NC_000011.9:g.77829680_77829683dup, NC_000011.9:g.77829679_77829683dup, NC_000011.9:g.77829678_77829683dup, NC_000011.9:g.77829676_77829683dup, NC_000011.9:g.77829674_77829683dup, NG_008926.1:g.26029_26038del, NG_008926.1:g.26030_26038del, NG_008926.1:g.26032_26038del, NG_008926.1:g.26034_26038del, NG_008926.1:g.26035_26038del, NG_008926.1:g.26036_26038del, NG_008926.1:g.26037_26038del, NG_008926.1:g.26038del, NG_008926.1:g.26038dup, NG_008926.1:g.26037_26038dup, NG_008926.1:g.26036_26038dup, NG_008926.1:g.26035_26038dup, NG_008926.1:g.26034_26038dup, NG_008926.1:g.26033_26038dup, NG_008926.1:g.26031_26038dup, NG_008926.1:g.26029_26038dup

Select item 149133020913.

rs1491330209 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78107839 (GRCh38)
11:77818885 (GRCh37)
Canonical SPDI:: NC_000011.10:78107838:CA:
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000011.10:g.78107839_78107840del, NC_000011.9:g.77818885_77818886del, NG_008926.1:g.36814_36815del

Select item 149130552814.

rs1491305528 has merged into rs55640013 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 11:78129431 (GRCh38)
11:77840477 (GRCh37)
Canonical SPDI:: NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:78129419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AA=0.0785/393 (1000Genomes)
HGVS:: NC_000011.10:g.78129431_78129435del, NC_000011.10:g.78129432_78129435del, NC_000011.10:g.78129433_78129435del, NC_000011.10:g.78129434_78129435del, NC_000011.10:g.78129435del, NC_000011.10:g.78129435dup, NC_000011.10:g.78129434_78129435dup, NC_000011.9:g.77840477_77840481del, NC_000011.9:g.77840478_77840481del, NC_000011.9:g.77840479_77840481del, NC_000011.9:g.77840480_77840481del, NC_000011.9:g.77840481del, NC_000011.9:g.77840481dup, NC_000011.9:g.77840480_77840481dup, NG_008926.1:g.15230_15234del, NG_008926.1:g.15231_15234del, NG_008926.1:g.15232_15234del, NG_008926.1:g.15233_15234del, NG_008926.1:g.15234del, NG_008926.1:g.15234dup, NG_008926.1:g.15233_15234dup

Select item 149126690515.

rs1491266905 [Homo sapiens]

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

Select item 149125049016.

rs1491250490 has merged into rs60253317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:78118628 (GRCh38)
11:77829674 (GRCh37)
Canonical SPDI:: NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78118615:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.3381/1693 (1000Genomes)
HGVS:: NC_000011.10:g.78118628_78118637del, NC_000011.10:g.78118629_78118637del, NC_000011.10:g.78118631_78118637del, NC_000011.10:g.78118633_78118637del, NC_000011.10:g.78118634_78118637del, NC_000011.10:g.78118635_78118637del, NC_000011.10:g.78118636_78118637del, NC_000011.10:g.78118637del, NC_000011.10:g.78118637dup, NC_000011.10:g.78118636_78118637dup, NC_000011.10:g.78118635_78118637dup, NC_000011.10:g.78118634_78118637dup, NC_000011.10:g.78118633_78118637dup, NC_000011.10:g.78118632_78118637dup, NC_000011.10:g.78118630_78118637dup, NC_000011.10:g.78118628_78118637dup, NC_000011.9:g.77829674_77829683del, NC_000011.9:g.77829675_77829683del, NC_000011.9:g.77829677_77829683del, NC_000011.9:g.77829679_77829683del, NC_000011.9:g.77829680_77829683del, NC_000011.9:g.77829681_77829683del, NC_000011.9:g.77829682_77829683del, NC_000011.9:g.77829683del, NC_000011.9:g.77829683dup, NC_000011.9:g.77829682_77829683dup, NC_000011.9:g.77829681_77829683dup, NC_000011.9:g.77829680_77829683dup, NC_000011.9:g.77829679_77829683dup, NC_000011.9:g.77829678_77829683dup, NC_000011.9:g.77829676_77829683dup, NC_000011.9:g.77829674_77829683dup, NG_008926.1:g.26029_26038del, NG_008926.1:g.26030_26038del, NG_008926.1:g.26032_26038del, NG_008926.1:g.26034_26038del, NG_008926.1:g.26035_26038del, NG_008926.1:g.26036_26038del, NG_008926.1:g.26037_26038del, NG_008926.1:g.26038del, NG_008926.1:g.26038dup, NG_008926.1:g.26037_26038dup, NG_008926.1:g.26036_26038dup, NG_008926.1:g.26035_26038dup, NG_008926.1:g.26034_26038dup, NG_008926.1:g.26033_26038dup, NG_008926.1:g.26031_26038dup, NG_008926.1:g.26029_26038dup

Select item 149112830117.

rs1491128301 has merged into rs1192507872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:78127721 (GRCh38)
11:77838767 (GRCh37)
Canonical SPDI:: NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78127712:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000011.10:g.78127721_78127727del, NC_000011.10:g.78127722_78127727del, NC_000011.10:g.78127723_78127727del, NC_000011.10:g.78127724_78127727del, NC_000011.10:g.78127725_78127727del, NC_000011.10:g.78127726_78127727del, NC_000011.10:g.78127727del, NC_000011.10:g.78127727dup, NC_000011.10:g.78127726_78127727dup, NC_000011.10:g.78127725_78127727dup, NC_000011.10:g.78127724_78127727dup, NC_000011.10:g.78127723_78127727dup, NC_000011.10:g.78127722_78127727dup, NC_000011.10:g.78127721_78127727dup, NC_000011.10:g.78127720_78127727dup, NC_000011.10:g.78127719_78127727dup, NC_000011.10:g.78127718_78127727dup, NC_000011.10:g.78127717_78127727dup, NC_000011.10:g.78127713_78127727dup, NC_000011.10:g.78127727_78127728insTTTTTTTTTTTTTTTT, NC_000011.10:g.78127727_78127728insTTTTTTTTTTTTTTTTT, NC_000011.10:g.78127727_78127728insTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78127727_78127728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77838767_77838773del, NC_000011.9:g.77838768_77838773del, NC_000011.9:g.77838769_77838773del, NC_000011.9:g.77838770_77838773del, NC_000011.9:g.77838771_77838773del, NC_000011.9:g.77838772_77838773del, NC_000011.9:g.77838773del, NC_000011.9:g.77838773dup, NC_000011.9:g.77838772_77838773dup, NC_000011.9:g.77838771_77838773dup, NC_000011.9:g.77838770_77838773dup, NC_000011.9:g.77838769_77838773dup, NC_000011.9:g.77838768_77838773dup, NC_000011.9:g.77838767_77838773dup, NC_000011.9:g.77838766_77838773dup, NC_000011.9:g.77838765_77838773dup, NC_000011.9:g.77838764_77838773dup, NC_000011.9:g.77838763_77838773dup, NC_000011.9:g.77838759_77838773dup, NC_000011.9:g.77838773_77838774insTTTTTTTTTTTTTTTT, NC_000011.9:g.77838773_77838774insTTTTTTTTTTTTTTTTT, NC_000011.9:g.77838773_77838774insTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77838773_77838774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008926.1:g.16935_16941del, NG_008926.1:g.16936_16941del, NG_008926.1:g.16937_16941del, NG_008926.1:g.16938_16941del, NG_008926.1:g.16939_16941del, NG_008926.1:g.16940_16941del, NG_008926.1:g.16941del, NG_008926.1:g.16941dup, NG_008926.1:g.16940_16941dup, NG_008926.1:g.16939_16941dup, NG_008926.1:g.16938_16941dup, NG_008926.1:g.16937_16941dup, NG_008926.1:g.16936_16941dup, NG_008926.1:g.16935_16941dup, NG_008926.1:g.16934_16941dup, NG_008926.1:g.16933_16941dup, NG_008926.1:g.16932_16941dup, NG_008926.1:g.16931_16941dup, NG_008926.1:g.16927_16941dup, NG_008926.1:g.16941_16942insAAAAAAAAAAAAAAAA, NG_008926.1:g.16941_16942insAAAAAAAAAAAAAAAAA, NG_008926.1:g.16941_16942insAAAAAAAAAAAAAAAAAAAA, NG_008926.1:g.16941_16942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149107510218.

rs1491075102 has merged into rs55823839 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:78117624 (GRCh38)
11:77828670 (GRCh37)
Canonical SPDI:: NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78117611:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2348/1176 (1000Genomes)
HGVS:: NC_000011.10:g.78117624_78117628del, NC_000011.10:g.78117626_78117628del, NC_000011.10:g.78117627_78117628del, NC_000011.10:g.78117628del, NC_000011.10:g.78117628dup, NC_000011.10:g.78117627_78117628dup, NC_000011.10:g.78117626_78117628dup, NC_000011.10:g.78117625_78117628dup, NC_000011.10:g.78117624_78117628dup, NC_000011.10:g.78117623_78117628dup, NC_000011.10:g.78117620_78117628dup, NC_000011.9:g.77828670_77828674del, NC_000011.9:g.77828672_77828674del, NC_000011.9:g.77828673_77828674del, NC_000011.9:g.77828674del, NC_000011.9:g.77828674dup, NC_000011.9:g.77828673_77828674dup, NC_000011.9:g.77828672_77828674dup, NC_000011.9:g.77828671_77828674dup, NC_000011.9:g.77828670_77828674dup, NC_000011.9:g.77828669_77828674dup, NC_000011.9:g.77828666_77828674dup, NG_008926.1:g.27038_27042del, NG_008926.1:g.27040_27042del, NG_008926.1:g.27041_27042del, NG_008926.1:g.27042del, NG_008926.1:g.27042dup, NG_008926.1:g.27041_27042dup, NG_008926.1:g.27040_27042dup, NG_008926.1:g.27039_27042dup, NG_008926.1:g.27038_27042dup, NG_008926.1:g.27037_27042dup, NG_008926.1:g.27034_27042dup

Select item 149105851419.

rs1491058514 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:78123337 (GRCh38)
11:77834383 (GRCh37)
Canonical SPDI:: NC_000011.10:78123335:AGA:A
Gene:: ALG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.78123337_78123338del, NC_000011.9:g.77834383_77834384del, NG_008926.1:g.21317_21318del

Select item 149103774220.

rs1491037742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:78138366 (GRCh38)
11:77849412 (GRCh37)
Canonical SPDI:: NC_000011.10:78138364:ATA:A
Gene:: ALG8 (Varview), KCTD21-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000117/16 (GnomAD)
HGVS:: NC_000011.10:g.78138366_78138367del, NC_000011.9:g.77849412_77849413del, NG_008926.1:g.6288_6289del

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