SNP Links for Gene (Select 64167) - SNP

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Select item 14915644081.

rs1491564408 has merged into rs1491016911 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 5:96889864 (GRCh38)
5:96225568 (GRCh37)
Canonical SPDI:: NC_000005.10:96889862:CGC:C,NC_000005.10:96889862:CGC:CGCGC
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
CG=0.000008/1 (GnomAD)
CG=0.000035/1 (TOMMO)
-=0.014833/55 (TWINSUK)
-=0.015049/58 (ALSPAC)
HGVS:: NC_000005.10:g.96889864_96889865del, NC_000005.10:g.96889864_96889865dup, NC_000005.9:g.96225568_96225569del, NC_000005.9:g.96225568_96225569dup, NG_027839.2:g.51120_51121del, NG_027839.2:g.51120_51121dup, NG_051092.1:g.18926_18927del, NG_051092.1:g.18926_18927dup

Select item 14915205252.

rs1491520525 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATG,TG [Show Flanks]
Chromosome:: 5:96887101 (GRCh38)
5:96222806 (GRCh37)
Canonical SPDI:: NC_000005.10:96887101::TATG,NC_000005.10:96887101::TG
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
HGVS:: NC_000005.10:g.96887101_96887102insTATG, NC_000005.10:g.96887101_96887102insTG, NC_000005.9:g.96222805_96222806insTATG, NC_000005.9:g.96222805_96222806insTG, NG_027839.2:g.53882_53883insCATA, NG_027839.2:g.53882_53883insCA, NG_051092.1:g.16163_16164insTATG, NG_051092.1:g.16163_16164insTG

Select item 14914871123.

rs1491487112 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:96916247 (GRCh38)
5:96251951 (GRCh37)
Canonical SPDI:: NC_000005.10:96916245:ACA:A
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001939/23 (ALFA)
-=0.002073/224 (GnomAD)
HGVS:: NC_000005.10:g.96916247_96916248del, NC_000005.9:g.96251951_96251952del, NG_027839.2:g.24737_24738del, NG_051092.1:g.45309_45310del

Select item 14914679484.

rs1491467948 [Homo sapiens]

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

Select item 14914678875.

rs1491467887 has merged into rs34358677 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 5:96916776 (GRCh38)
5:96252480 (GRCh37)
Canonical SPDI:: NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:96916765:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4898/2453 (1000Genomes)
HGVS:: NC_000005.10:g.96916776_96916779del, NC_000005.10:g.96916778_96916779del, NC_000005.10:g.96916779del, NC_000005.10:g.96916779dup, NC_000005.10:g.96916778_96916779dup, NC_000005.10:g.96916777_96916779dup, NC_000005.10:g.96916776_96916779dup, NC_000005.9:g.96252480_96252483del, NC_000005.9:g.96252482_96252483del, NC_000005.9:g.96252483del, NC_000005.9:g.96252483dup, NC_000005.9:g.96252482_96252483dup, NC_000005.9:g.96252481_96252483dup, NC_000005.9:g.96252480_96252483dup, NG_027839.2:g.24215_24218del, NG_027839.2:g.24217_24218del, NG_027839.2:g.24218del, NG_027839.2:g.24218dup, NG_027839.2:g.24217_24218dup, NG_027839.2:g.24216_24218dup, NG_027839.2:g.24215_24218dup, NG_051092.1:g.45838_45841del, NG_051092.1:g.45840_45841del, NG_051092.1:g.45841del, NG_051092.1:g.45841dup, NG_051092.1:g.45840_45841dup, NG_051092.1:g.45839_45841dup, NG_051092.1:g.45838_45841dup

Select item 14913868726.

rs1491386872 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:96874171 (GRCh38)
5:96209875 (GRCh37)
Canonical SPDI:: NC_000005.10:96874171::G
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.00019/15 (GnomAD)
HGVS:: NC_000005.10:g.96874171_96874172insG, NC_000005.9:g.96209874_96209875insG, NG_027839.2:g.66812_66813insC, NG_051092.1:g.3233_3234insG

Select item 14913675157.

rs1491367515 has merged into rs137875303 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 5:96887116 (GRCh38)
5:96222820 (GRCh37)
Canonical SPDI:: NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:96887100:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
ACACAC=0.405/1561 (ALSPAC)
ACACAC=0.4124/1529 (TWINSUK)
ACACAC=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.96887102CA[7], NC_000005.10:g.96887102CA[8], NC_000005.10:g.96887102CA[9], NC_000005.10:g.96887102CA[10], NC_000005.10:g.96887102CA[11], NC_000005.10:g.96887102CA[12], NC_000005.10:g.96887102CA[14], NC_000005.10:g.96887102CA[15], NC_000005.9:g.96222806CA[7], NC_000005.9:g.96222806CA[8], NC_000005.9:g.96222806CA[9], NC_000005.9:g.96222806CA[10], NC_000005.9:g.96222806CA[11], NC_000005.9:g.96222806CA[12], NC_000005.9:g.96222806CA[14], NC_000005.9:g.96222806CA[15], NG_027839.2:g.53858GT[7], NG_027839.2:g.53858GT[8], NG_027839.2:g.53858GT[9], NG_027839.2:g.53858GT[10], NG_027839.2:g.53858GT[11], NG_027839.2:g.53858GT[12], NG_027839.2:g.53858GT[14], NG_027839.2:g.53858GT[15], NG_051092.1:g.16164CA[7], NG_051092.1:g.16164CA[8], NG_051092.1:g.16164CA[9], NG_051092.1:g.16164CA[10], NG_051092.1:g.16164CA[11], NG_051092.1:g.16164CA[12], NG_051092.1:g.16164CA[14], NG_051092.1:g.16164CA[15]

Select item 14913506988.

rs1491350698 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAGAAAGA,AAGAAAAAGAAAGA,AAGAAAGAAAAAGAAAGA [Show Flanks]
Chromosome:: 5:96874174 (GRCh38)
5:96209878 (GRCh37)
Canonical SPDI:: NC_000005.10:96874174:AAAGAAAGA:AAAGAAAGAAAAAGAAAGA,NC_000005.10:96874174:AAAGAAAGA:AAAGAAAGAAAGAAAAAGAAAGA,NC_000005.10:96874174:AAAGAAAGA:AAAGAAAGAAAGAAAGAAAAAGAAAGA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAGAAAGAAAAAGAAAGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.96874175_96874183AAAG[2]A[5]GAAAGA[1], NC_000005.10:g.96874175_96874183AAAG[3]A[5]GAAAGA[1], NC_000005.10:g.96874175_96874183AAAG[4]A[5]GAAAGA[1], NC_000005.9:g.96209878_96209886AAAG[2]A[5]GAAAGA[1], NC_000005.9:g.96209878_96209886AAAG[3]A[5]GAAAGA[1], NC_000005.9:g.96209878_96209886AAAG[4]A[5]GAAAGA[1], NG_027839.2:g.66801_66809TCTT[2]TTTC[2]TTT[1], NG_027839.2:g.66801_66809TCTT[2]TTTC[3]TTT[1], NG_027839.2:g.66801_66809TCTT[2]TTTC[4]TTT[1], NG_051092.1:g.3237_3245AAAG[2]A[5]GAAAGA[1], NG_051092.1:g.3237_3245AAAG[3]A[5]GAAAGA[1], NG_051092.1:g.3237_3245AAAG[4]A[5]GAAAGA[1]

Select item 14913189849.

rs1491318984 has merged into rs1554061288 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:96914163 (GRCh38)
5:96249867 (GRCh37)
Canonical SPDI:: NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:96914148:CACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000005.10:g.96914149CA[7], NC_000005.10:g.96914149CA[8], NC_000005.10:g.96914149CA[9], NC_000005.10:g.96914149CA[11], NC_000005.10:g.96914149CA[12], NC_000005.10:g.96914149CA[13], NC_000005.10:g.96914149CA[14], NC_000005.10:g.96914149CA[15], NC_000005.10:g.96914149CA[16], NC_000005.10:g.96914149CA[17], NC_000005.10:g.96914149CA[18], NC_000005.10:g.96914149CA[19], NC_000005.10:g.96914149CA[20], NC_000005.10:g.96914149CA[21], NC_000005.10:g.96914149CA[22], NC_000005.10:g.96914149CA[23], NC_000005.10:g.96914149CA[24], NC_000005.10:g.96914149CA[25], NC_000005.9:g.96249853CA[7], NC_000005.9:g.96249853CA[8], NC_000005.9:g.96249853CA[9], NC_000005.9:g.96249853CA[11], NC_000005.9:g.96249853CA[12], NC_000005.9:g.96249853CA[13], NC_000005.9:g.96249853CA[14], NC_000005.9:g.96249853CA[15], NC_000005.9:g.96249853CA[16], NC_000005.9:g.96249853CA[17], NC_000005.9:g.96249853CA[18], NC_000005.9:g.96249853CA[19], NC_000005.9:g.96249853CA[20], NC_000005.9:g.96249853CA[21], NC_000005.9:g.96249853CA[22], NC_000005.9:g.96249853CA[23], NC_000005.9:g.96249853CA[24], NC_000005.9:g.96249853CA[25], NG_027839.2:g.26816TG[7], NG_027839.2:g.26816TG[8], NG_027839.2:g.26816TG[9], NG_027839.2:g.26816TG[11], NG_027839.2:g.26816TG[12], NG_027839.2:g.26816TG[13], NG_027839.2:g.26816TG[14], NG_027839.2:g.26816TG[15], NG_027839.2:g.26816TG[16], NG_027839.2:g.26816TG[17], NG_027839.2:g.26816TG[18], NG_027839.2:g.26816TG[19], NG_027839.2:g.26816TG[20], NG_027839.2:g.26816TG[21], NG_027839.2:g.26816TG[22], NG_027839.2:g.26816TG[23], NG_027839.2:g.26816TG[24], NG_027839.2:g.26816TG[25], NG_051092.1:g.43211CA[7], NG_051092.1:g.43211CA[8], NG_051092.1:g.43211CA[9], NG_051092.1:g.43211CA[11], NG_051092.1:g.43211CA[12], NG_051092.1:g.43211CA[13], NG_051092.1:g.43211CA[14], NG_051092.1:g.43211CA[15], NG_051092.1:g.43211CA[16], NG_051092.1:g.43211CA[17], NG_051092.1:g.43211CA[18], NG_051092.1:g.43211CA[19], NG_051092.1:g.43211CA[20], NG_051092.1:g.43211CA[21], NG_051092.1:g.43211CA[22], NG_051092.1:g.43211CA[23], NG_051092.1:g.43211CA[24], NG_051092.1:g.43211CA[25]

Select item 149126008510.

rs1491260085 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:96896548 (GRCh38)
5:96232252 (GRCh37)
Canonical SPDI:: NC_000005.10:96896545:GTGT:GT
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (ExAC)
HGVS:: NC_000005.10:g.96896546GT[1], NC_000005.9:g.96232250GT[1], NG_027839.2:g.44435AC[1], NG_051092.1:g.25608GT[1]

Select item 149125164211.

rs1491251642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACACA,TACACACA [Show Flanks]
Chromosome:: 5:96891572 (GRCh38)
5:96227277 (GRCh37)
Canonical SPDI:: NC_000005.10:96891572:A:ATACA,NC_000005.10:96891572:A:ATACACA,NC_000005.10:96891572:A:ATACACACA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
ATAC=0.00021/3 (TOMMO)
HGVS:: NC_000005.10:g.96891573_96891574insTACA, NC_000005.10:g.96891573_96891574insTACACA, NC_000005.10:g.96891573_96891574insTACACACA, NC_000005.9:g.96227277_96227278insTACA, NC_000005.9:g.96227277_96227278insTACACA, NC_000005.9:g.96227277_96227278insTACACACA, NG_027839.2:g.49411_49412insGTAT, NG_027839.2:g.49411TG[2]TAT[1], NG_027839.2:g.49411TG[3]TAT[1], NG_051092.1:g.20635_20636insTACA, NG_051092.1:g.20635_20636insTACACA, NG_051092.1:g.20635_20636insTACACACA

Select item 149124631012.

rs1491246310 has merged into rs1319654321 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 5:96891583 (GRCh38)
5:96227287 (GRCh37)
Canonical SPDI:: NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:96891572:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.05085/30 (NorthernSweden)
-=0.06061/12 (Vietnamese)
HGVS:: NC_000005.10:g.96891573AC[5], NC_000005.10:g.96891573AC[6], NC_000005.10:g.96891573AC[7], NC_000005.10:g.96891573AC[8], NC_000005.10:g.96891573AC[9], NC_000005.10:g.96891573AC[10], NC_000005.10:g.96891573AC[12], NC_000005.10:g.96891573AC[13], NC_000005.9:g.96227277AC[5], NC_000005.9:g.96227277AC[6], NC_000005.9:g.96227277AC[7], NC_000005.9:g.96227277AC[8], NC_000005.9:g.96227277AC[9], NC_000005.9:g.96227277AC[10], NC_000005.9:g.96227277AC[12], NC_000005.9:g.96227277AC[13], NG_027839.2:g.49390GT[5], NG_027839.2:g.49390GT[6], NG_027839.2:g.49390GT[7], NG_027839.2:g.49390GT[8], NG_027839.2:g.49390GT[9], NG_027839.2:g.49390GT[10], NG_027839.2:g.49390GT[12], NG_027839.2:g.49390GT[13], NG_051092.1:g.20635AC[5], NG_051092.1:g.20635AC[6], NG_051092.1:g.20635AC[7], NG_051092.1:g.20635AC[8], NG_051092.1:g.20635AC[9], NG_051092.1:g.20635AC[10], NG_051092.1:g.20635AC[12], NG_051092.1:g.20635AC[13]

Select item 149118271613.

rs1491182716 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:96874179 (GRCh38)
5:96209883 (GRCh37)
Canonical SPDI:: NC_000005.10:96874179::G
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.00008/1 (TOMMO)
G=0.00056/1 (Korea1K)
G=0.00084/41 (GnomAD)
HGVS:: NC_000005.10:g.96874179_96874180insG, NC_000005.9:g.96209882_96209883insG, NG_027839.2:g.66804_66805insC, NG_051092.1:g.3241_3242insG

Select item 149115449014.

rs1491154490 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA,AAAAAA [Show Flanks]
Chromosome:: 5:96874172 (GRCh38)
5:96209875 (GRCh37)
Canonical SPDI:: NC_000005.10:96874170:AAA:A,NC_000005.10:96874170:AAA:AAAAA,NC_000005.10:96874170:AAA:AAAAAAA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00002/2 (GnomAD)
AAAA=0.05852/217 (TWINSUK)
AAAA=0.06331/244 (ALSPAC)
HGVS:: NC_000005.10:g.96874172_96874173del, NC_000005.10:g.96874172_96874173dup, NC_000005.10:g.96874173_96874174insAAAA, NC_000005.9:g.96209875_96209876del, NC_000005.9:g.96209875_96209876dup, NC_000005.9:g.96209876_96209877insAAAA, NG_027839.2:g.66812_66813del, NG_027839.2:g.66812_66813dup, NG_027839.2:g.66813_66814insTTTT, NG_051092.1:g.3234_3235del, NG_051092.1:g.3234_3235dup, NG_051092.1:g.3235_3236insAAAA

Select item 149112817915.

rs1491128179 has merged into rs72107567 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 5:96891369 (GRCh38)
5:96227073 (GRCh37)
Canonical SPDI:: NC_000005.10:96891367:TGTGT:T,NC_000005.10:96891367:TGTGT:TGT,NC_000005.10:96891367:TGTGT:TGTGTGT
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.30393/2226 (ALFA)
-=0.00363/14 (ALSPAC)
TG=0.43231/792 (Korea1K)
TG=0.43667/262 (NorthernSweden)
TG=0.44689/446 (GoNL)
TG=0.45/18 (GENOME_DK)
TG=0.46166/2312 (1000Genomes)
-=0.4879/8172 (TOMMO)
HGVS:: NC_000005.10:g.96891369_96891372del, NC_000005.10:g.96891369GT[1], NC_000005.10:g.96891369GT[3], NC_000005.9:g.96227073_96227076del, NC_000005.9:g.96227073GT[1], NC_000005.9:g.96227073GT[3], NG_027839.2:g.49613_49616del, NG_027839.2:g.49613CA[1], NG_027839.2:g.49613CA[3], NG_051092.1:g.20431_20434del, NG_051092.1:g.20431GT[1], NG_051092.1:g.20431GT[3]

Select item 149108847116.

rs1491088471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:96891385 (GRCh38)
5:96227090 (GRCh37)
Canonical SPDI:: NC_000005.10:96891385:TGTGT:TGTGTGT
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
TG=0.000035/1 (TOMMO)
TG=0.000117/16 (GnomAD)
HGVS:: NC_000005.10:g.96891387GT[3], NC_000005.9:g.96227091GT[3], NG_027839.2:g.49595CA[3], NG_051092.1:g.20449GT[3]

Select item 149108838717.

rs1491088387 has merged into rs751589417 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 5:96874188 (GRCh38)
5:96209891 (GRCh37)
Canonical SPDI:: NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGA,NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGAGA,NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGAGAGAGA,NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000005.10:96874180:AGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
AG=0.03103/18 (NorthernSweden)
AG=0.15918/2668 (TOMMO)
AG=0.25/2 (KOREAN)
HGVS:: NC_000005.10:g.96874182GA[3], NC_000005.10:g.96874182GA[4], NC_000005.10:g.96874182GA[6], NC_000005.10:g.96874182GA[7], NC_000005.10:g.96874182GA[8], NC_000005.10:g.96874182GA[9], NC_000005.10:g.96874182GA[10], NC_000005.9:g.96209885GA[3], NC_000005.9:g.96209885GA[4], NC_000005.9:g.96209885GA[6], NC_000005.9:g.96209885GA[7], NC_000005.9:g.96209885GA[8], NC_000005.9:g.96209885GA[9], NC_000005.9:g.96209885GA[10], NG_027839.2:g.66794CT[3], NG_027839.2:g.66794CT[4], NG_027839.2:g.66794CT[6], NG_027839.2:g.66794CT[7], NG_027839.2:g.66794CT[8], NG_027839.2:g.66794CT[9], NG_027839.2:g.66794CT[10], NG_051092.1:g.3244GA[3], NG_051092.1:g.3244GA[4], NG_051092.1:g.3244GA[6], NG_051092.1:g.3244GA[7], NG_051092.1:g.3244GA[8], NG_051092.1:g.3244GA[9], NG_051092.1:g.3244GA[10]

Select item 149107775718.

rs1491077757 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:96874166 (GRCh38)
5:96209869 (GRCh37)
Canonical SPDI:: NC_000005.10:96874164:AGA:A
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.96874166_96874167del, NC_000005.9:g.96209869_96209870del, NG_027839.2:g.66818_66819del, NG_051092.1:g.3228_3229del

Select item 149104288219.

rs1491042882 has merged into rs768398605 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 5:96874174 (GRCh38)
5:96209877 (GRCh37)
Canonical SPDI:: NC_000005.10:96874172:AGA:A,NC_000005.10:96874172:AGA:AGAGA,NC_000005.10:96874172:AGA:AGAGAGAGAGA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.96874174_96874175del, NC_000005.10:g.96874174_96874175dup, NC_000005.10:g.96874174GA[5], NC_000005.9:g.96209877_96209878del, NC_000005.9:g.96209877_96209878dup, NC_000005.9:g.96209877GA[5], NG_027839.2:g.66810_66811del, NG_027839.2:g.66810_66811dup, NG_027839.2:g.66810CT[5], NG_051092.1:g.3236_3237del, NG_051092.1:g.3236_3237dup, NG_051092.1:g.3236GA[5]

Select item 149103611120.

rs1491036111 has merged into rs35426777 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 5:96875546 (GRCh38)
5:96211249 (GRCh37)
Canonical SPDI:: NC_000005.10:96875535:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:96875535:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:96875535:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:96875535:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:96875535:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:96875535:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ERAP1 (Varview), ERAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.3359/1682 (1000Genomes)
HGVS:: NC_000005.10:g.96875546_96875549del, NC_000005.10:g.96875547_96875549del, NC_000005.10:g.96875548_96875549del, NC_000005.10:g.96875549del, NC_000005.10:g.96875549dup, NC_000005.10:g.96875548_96875549dup, NC_000005.9:g.96211249_96211252del, NC_000005.9:g.96211250_96211252del, NC_000005.9:g.96211251_96211252del, NC_000005.9:g.96211252del, NC_000005.9:g.96211252dup, NC_000005.9:g.96211251_96211252dup, NG_027839.2:g.65445_65448del, NG_027839.2:g.65446_65448del, NG_027839.2:g.65447_65448del, NG_027839.2:g.65448del, NG_027839.2:g.65448dup, NG_027839.2:g.65447_65448dup, NG_051092.1:g.4608_4611del, NG_051092.1:g.4609_4611del, NG_051092.1:g.4610_4611del, NG_051092.1:g.4611del, NG_051092.1:g.4611dup, NG_051092.1:g.4610_4611dup

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