SNP Links for Gene (Select 270) - SNP

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Select item 14913256981.

rs1491325698 has merged into rs68036474 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:114695407 (GRCh38)
1:115238028 (GRCh37)
Canonical SPDI:: NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0053/7 (1000Genomes)
A=0.0285/110 (ALSPAC)
A=0.0326/121 (TWINSUK)
HGVS:: NC_000001.11:g.114695407_114695410del, NC_000001.11:g.114695408_114695410del, NC_000001.11:g.114695409_114695410del, NC_000001.11:g.114695410del, NC_000001.11:g.114695410dup, NC_000001.11:g.114695409_114695410dup, NC_000001.11:g.114695408_114695410dup, NC_000001.10:g.115238028_115238031del, NC_000001.10:g.115238029_115238031del, NC_000001.10:g.115238030_115238031del, NC_000001.10:g.115238031del, NC_000001.10:g.115238031dup, NC_000001.10:g.115238030_115238031dup, NC_000001.10:g.115238029_115238031dup, NG_008012.1:g.5157_5160del, NG_008012.1:g.5158_5160del, NG_008012.1:g.5159_5160del, NG_008012.1:g.5160del, NG_008012.1:g.5160dup, NG_008012.1:g.5159_5160dup, NG_008012.1:g.5158_5160dup

Select item 14912158282.

rs1491215828 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCTTCCTTCCTTCCTTCCT [Show Flanks]
Chromosome:: 1:114677832 (GRCh38)
1:115220454 (GRCh37)
Canonical SPDI:: NC_000001.11:114677832:CCTTCCTTCCTTCCTTCCT:CCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCT
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CCTTCCTTCCTTCCTTCCTC=0.000037/5 (GnomAD)
HGVS:: NC_000001.11:g.114677833_114677851CCTT[4]CCTCCCTTCCTTCCTTCCTTCCT[1], NC_000001.10:g.115220454_115220472CCTT[4]CCTCCCTTCCTTCCTTCCTTCCT[1], NG_008012.1:g.22705_22723AGGA[4]AGGGAGGAAGGAAGGAAGGAAGG[1]

Select item 14911964673.

rs1491196467 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:114677832 (GRCh38)
1:115220453 (GRCh37)
Canonical SPDI:: NC_000001.11:114677831:TC:
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000038/5 (GnomAD)
HGVS:: NC_000001.11:g.114677832_114677833del, NC_000001.10:g.115220453_115220454del, NG_008012.1:g.22723_22724del

Select item 14911467124.

rs1491146712 has merged into rs68036474 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:114695407 (GRCh38)
1:115238028 (GRCh37)
Canonical SPDI:: NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:114695395:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0053/7 (1000Genomes)
A=0.0285/110 (ALSPAC)
A=0.0326/121 (TWINSUK)
HGVS:: NC_000001.11:g.114695407_114695410del, NC_000001.11:g.114695408_114695410del, NC_000001.11:g.114695409_114695410del, NC_000001.11:g.114695410del, NC_000001.11:g.114695410dup, NC_000001.11:g.114695409_114695410dup, NC_000001.11:g.114695408_114695410dup, NC_000001.10:g.115238028_115238031del, NC_000001.10:g.115238029_115238031del, NC_000001.10:g.115238030_115238031del, NC_000001.10:g.115238031del, NC_000001.10:g.115238031dup, NC_000001.10:g.115238030_115238031dup, NC_000001.10:g.115238029_115238031dup, NG_008012.1:g.5157_5160del, NG_008012.1:g.5158_5160del, NG_008012.1:g.5159_5160del, NG_008012.1:g.5160del, NG_008012.1:g.5160dup, NG_008012.1:g.5159_5160dup, NG_008012.1:g.5158_5160dup

Select item 14911225265.

rs1491122526 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:114695937 (GRCh38)
1:115238558 (GRCh37)
Canonical SPDI:: NC_000001.11:114695930:ACACACAC:ACACAC
Gene:: AMPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.114695931AC[3], NC_000001.10:g.115238552AC[3], NG_008012.1:g.4618GT[3]

Select item 14910442886.

rs1491044288 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:114692770 (GRCh38)
1:115235391 (GRCh37)
Canonical SPDI:: NC_000001.11:114692769:TG:
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00172/28 (ALFA)
HGVS:: NC_000001.11:g.114692770_114692771del, NC_000001.10:g.115235391_115235392del, NG_008012.1:g.7785_7786del

Select item 14910138597.

rs1491013859 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:114692755 (GRCh38)
1:115235377 (GRCh37)
Canonical SPDI:: NC_000001.11:114692755::A
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000018/1 (GnomAD)
HGVS:: NC_000001.11:g.114692755_114692756insA, NC_000001.10:g.115235376_115235377insA, NG_008012.1:g.7800_7801insT

Select item 14908185988.

rs1490818598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:114684856 (GRCh38)
1:115227477 (GRCh37)
Canonical SPDI:: NC_000001.11:114684855:G:A,NC_000001.11:114684855:G:C,NC_000001.11:114684855:G:T
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.114684856G>A, NC_000001.11:g.114684856G>C, NC_000001.11:g.114684856G>T, NC_000001.10:g.115227477G>A, NC_000001.10:g.115227477G>C, NC_000001.10:g.115227477G>T, NG_008012.1:g.15700C>T, NG_008012.1:g.15700C>G, NG_008012.1:g.15700C>A

Select item 14906076399.

rs1490607639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114687289 (GRCh38)
1:115229910 (GRCh37)
Canonical SPDI:: NC_000001.11:114687288:T:C
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.114687289T>C, NC_000001.10:g.115229910T>C, NG_008012.1:g.13267A>G

Select item 149044454110.

rs1490444541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:114695911 (GRCh38)
1:115238532 (GRCh37)
Canonical SPDI:: NC_000001.11:114695910:A:C,NC_000001.11:114695910:A:G
Gene:: AMPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.114695911A>C, NC_000001.11:g.114695911A>G, NC_000001.10:g.115238532A>C, NC_000001.10:g.115238532A>G, NG_008012.1:g.4645T>G, NG_008012.1:g.4645T>C

Select item 149030589911.

rs1490305899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:114688494 (GRCh38)
1:115231115 (GRCh37)
Canonical SPDI:: NC_000001.11:114688493:A:G
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.114688494A>G, NC_000001.10:g.115231115A>G, NG_008012.1:g.12062T>C

Select item 149025838412.

rs1490258384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:114672648 (GRCh38)
1:115215269 (GRCh37)
Canonical SPDI:: NC_000001.11:114672647:A:C,NC_000001.11:114672647:A:G
Gene:: AMPD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.114672648A>C, NC_000001.11:g.114672648A>G, NC_000001.10:g.115215269A>C, NC_000001.10:g.115215269A>G, NG_008012.1:g.27908T>G, NG_008012.1:g.27908T>C

Select item 149006698013.

rs1490066980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114695802 (GRCh38)
1:115238423 (GRCh37)
Canonical SPDI:: NC_000001.11:114695801:T:C
Gene:: AMPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.114695802T>C, NC_000001.10:g.115238423T>C, NG_008012.1:g.4754A>G

Select item 148981521014.

rs1489815210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:114686876 (GRCh38)
1:115229497 (GRCh37)
Canonical SPDI:: NC_000001.11:114686875:A:T
Gene:: AMPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.114686876A>T, NC_000001.10:g.115229497A>T, NG_008012.1:g.13680T>A, NM_000036.3:c.250T>A, NM_000036.2:c.349T>A, NM_001172626.2:c.238T>A, NM_001172626.1:c.337T>A, NP_000027.3:p.Leu84Met, NP_001166097.2:p.Leu80Met

Select item 148957736115.

rs1489577361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114681724 (GRCh38)
1:115224345 (GRCh37)
Canonical SPDI:: NC_000001.11:114681723:T:C
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.114681724T>C, NC_000001.10:g.115224345T>C, NG_008012.1:g.18832A>G

Select item 148936396816.

rs1489363968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:114678298 (GRCh38)
1:115220919 (GRCh37)
Canonical SPDI:: NC_000001.11:114678297:A:G
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.114678298A>G, NC_000001.10:g.115220919A>G, NG_008012.1:g.22258T>C

Select item 148933362317.

rs1489333623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:114677437 (GRCh38)
1:115220058 (GRCh37)
Canonical SPDI:: NC_000001.11:114677436:A:T
Gene:: AMPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.114677437A>T, NC_000001.10:g.115220058A>T, NG_008012.1:g.23119T>A, NM_000036.3:c.1302T>A, NM_000036.2:c.1401T>A, NM_001172626.2:c.1290T>A, NM_001172626.1:c.1389T>A, NP_000027.3:p.Asp434Glu, NP_001166097.2:p.Asp430Glu

Select item 148919684018.

rs1489196840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:114690601 (GRCh38)
1:115233222 (GRCh37)
Canonical SPDI:: NC_000001.11:114690600:C:A,NC_000001.11:114690600:C:T
Gene:: AMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000389/7 (TOMMO)
HGVS:: NC_000001.11:g.114690601C>A, NC_000001.11:g.114690601C>T, NC_000001.10:g.115233222C>A, NC_000001.10:g.115233222C>T, NG_008012.1:g.9955G>T, NG_008012.1:g.9955G>A

Select item 148912083319.

rs1489120833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:114674067 (GRCh38)
1:115216688 (GRCh37)
Canonical SPDI:: NC_000001.11:114674066:A:G
Gene:: AMPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.114674067A>G, NC_000001.10:g.115216688A>G, NG_008012.1:g.26489T>C, NM_000036.3:c.1816T>C, NM_000036.2:c.1915T>C, NM_001172626.2:c.1804T>C, NM_001172626.1:c.1903T>C, NP_000027.3:p.Tyr606His, NP_001166097.2:p.Tyr602His

Select item 148907003120.

rs1489070031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:114672666 (GRCh38)
1:115215287 (GRCh37)
Canonical SPDI:: NC_000001.11:114672665:G:A,NC_000001.11:114672665:G:C
Gene:: AMPD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.114672666G>A, NC_000001.11:g.114672666G>C, NC_000001.10:g.115215287G>A, NC_000001.10:g.115215287G>C, NG_008012.1:g.27890C>T, NG_008012.1:g.27890C>G

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