SNP Links for Gene (Select 175) - SNP

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Select item 14915490641.

rs1491549064 has merged into rs747908061 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 4:177440473 (GRCh38)
4:178361627 (GRCh37)
Canonical SPDI:: NC_000004.12:177440465:TTTTTTTTT:TTTTTTT,NC_000004.12:177440465:TTTTTTTTT:TTTTTTTT,NC_000004.12:177440465:TTTTTTTTT:TTTTTTTTTT
Gene:: AGA (Varview), AGA-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.00104/24 (ALFA)
-=0.00039/7 (TOMMO)
HGVS:: NC_000004.12:g.177440473_177440474del, NC_000004.12:g.177440474del, NC_000004.12:g.177440474dup, NC_000004.11:g.178361627_178361628del, NC_000004.11:g.178361628del, NC_000004.11:g.178361628dup, NG_011845.2:g.7037_7038del, NG_011845.2:g.7038del, NG_011845.2:g.7038dup

Select item 14913513212.

rs1491351321 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:177430771 (GRCh38)
4:178351925 (GRCh37)
Canonical SPDI:: NC_000004.12:177430769:AAA:A
Gene:: AGA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000063/8 (GnomAD_exomes)
-=0.000207/29 (GnomAD)
HGVS:: NC_000004.12:g.177430771_177430772del, NC_000004.11:g.178351925_178351926del, NG_011845.2:g.16733_16734del

Select item 14911696263.

rs1491169626 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:177430770 (GRCh38)
4:178351925 (GRCh37)
Canonical SPDI:: NC_000004.12:177430770::T
Gene:: AGA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.177430770_177430771insT, NC_000004.11:g.178351924_178351925insT, NG_011845.2:g.16733_16734insA

Select item 14907636384.

rs1490763638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:177431389 (GRCh38)
4:178352543 (GRCh37)
Canonical SPDI:: NC_000004.12:177431388:A:G
Gene:: AGA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.177431389A>G, NC_000004.11:g.178352543A>G, NG_011845.2:g.16115T>C, NM_000027.4:c.*319T>C, NM_000027.3:c.*319T>C, NM_001171988.2:c.*319T>C, NM_001171988.1:c.*319T>C, NR_033655.2:n.1346T>C, NR_033655.1:n.1412T>C

Select item 14906545255.

rs1490654525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:177430327 (GRCh38)
4:178351481 (GRCh37)
Canonical SPDI:: NC_000004.12:177430326:T:G
Gene:: AGA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.177430327T>G, NC_000004.11:g.178351481T>G, NG_011845.2:g.17177A>C

Select item 14906492386.

rs1490649238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:177430289 (GRCh38)
4:178351443 (GRCh37)
Canonical SPDI:: NC_000004.12:177430288:A:G,NC_000004.12:177430288:A:T
Gene:: AGA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.177430289A>G, NC_000004.12:g.177430289A>T, NC_000004.11:g.178351443A>G, NC_000004.11:g.178351443A>T, NG_011845.2:g.17215T>C, NG_011845.2:g.17215T>A

Select item 14904690857.

rs1490469085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:177439430 (GRCh38)
4:178360584 (GRCh37)
Canonical SPDI:: NC_000004.12:177439429:A:G,NC_000004.12:177439429:A:T
Gene:: AGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.177439430A>G, NC_000004.12:g.177439430A>T, NC_000004.11:g.178360584A>G, NC_000004.11:g.178360584A>T, NG_011845.2:g.8074T>C, NG_011845.2:g.8074T>A

Select item 14903586448.

rs1490358644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:177433077 (GRCh38)
4:178354231 (GRCh37)
Canonical SPDI:: NC_000004.12:177433076:G:A
Gene:: AGA (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.177433077G>A, NC_000004.11:g.178354231G>A, NG_011845.2:g.14427C>T

Select item 14899726769.

rs1489972676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:177430775 (GRCh38)
4:178351929 (GRCh37)
Canonical SPDI:: NC_000004.12:177430774:T:C
Gene:: AGA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.177430775T>C, NC_000004.11:g.178351929T>C, NG_011845.2:g.16729A>G, NM_000027.4:c.*933A>G, NM_000027.3:c.*933A>G, NM_001171988.2:c.*933A>G, NM_001171988.1:c.*933A>G, NR_033655.2:n.1960A>G, NR_033655.1:n.2026A>G

Select item 148991564010.

rs1489915640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:177433796 (GRCh38)
4:178354950 (GRCh37)
Canonical SPDI:: NC_000004.12:177433795:T:A
Gene:: AGA (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.177433796T>A, NC_000004.11:g.178354950T>A, NG_011845.2:g.13708A>T

Select item 148986982311.

rs1489869823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:177434163 (GRCh38)
4:178355317 (GRCh37)
Canonical SPDI:: NC_000004.12:177434162:T:C,NC_000004.12:177434162:T:G
Gene:: AGA (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.177434163T>C, NC_000004.12:g.177434163T>G, NC_000004.11:g.178355317T>C, NC_000004.11:g.178355317T>G, NG_011845.2:g.13341A>G, NG_011845.2:g.13341A>C

Select item 148974988412.

rs1489749884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:177441531 (GRCh38)
4:178362685 (GRCh37)
Canonical SPDI:: NC_000004.12:177441530:T:C
Gene:: AGA (Varview), AGA-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.177441531T>C, NC_000004.11:g.178362685T>C, NG_011845.2:g.5973A>G

Select item 148972473013.

rs1489724730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:177434427 (GRCh38)
4:178355581 (GRCh37)
Canonical SPDI:: NC_000004.12:177434426:G:C
Gene:: AGA (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0027/5 (Korea1K)
HGVS:: NC_000004.12:g.177434427G>C, NC_000004.11:g.178355581G>C, NG_011845.2:g.13077C>G, NM_000027.4:c.761C>G, NM_000027.3:c.761C>G, NM_001171988.2:c.731C>G, NM_001171988.1:c.731C>G, NR_033655.2:n.747C>G, NR_033655.1:n.813C>G, XM_047449722.1:c.*55C>G, NP_000018.2:p.Ala254Gly, NP_001165459.1:p.Ala244Gly

Select item 148921135214.

rs1489211352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:177440376 (GRCh38)
4:178361530 (GRCh37)
Canonical SPDI:: NC_000004.12:177440375:C:A,NC_000004.12:177440375:C:T
Gene:: AGA (Varview), AGA-DT (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177440376C>A, NC_000004.12:g.177440376C>T, NC_000004.11:g.178361530C>A, NC_000004.11:g.178361530C>T, NG_011845.2:g.7128G>T, NG_011845.2:g.7128G>A, NM_000027.4:c.178G>T, NM_000027.4:c.178G>A, NM_000027.3:c.178G>T, NM_000027.3:c.178G>A, NM_001171988.2:c.178G>T, NM_001171988.2:c.178G>A, NM_001171988.1:c.178G>T, NM_001171988.1:c.178G>A, NR_033655.2:n.240G>T, NR_033655.2:n.240G>A, NR_033655.1:n.306G>T, NR_033655.1:n.306G>A, XM_047449722.1:c.178G>T, XM_047449722.1:c.178G>A, NP_000018.2:p.Gly60Cys, NP_000018.2:p.Gly60Ser, NP_001165459.1:p.Gly60Cys, NP_001165459.1:p.Gly60Ser, XP_047305678.1:p.Gly60Cys, XP_047305678.1:p.Gly60Ser

Select item 148914043715.

rs1489140437 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:177439950 (GRCh38)
4:178361104 (GRCh37)
Canonical SPDI:: NC_000004.12:177439949:AAA:AA
Gene:: AGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000004.12:g.177439952del, NC_000004.11:g.178361106del, NG_011845.2:g.7554del

Select item 148869886216.

rs1488698862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:177437682 (GRCh38)
4:178358836 (GRCh37)
Canonical SPDI:: NC_000004.12:177437681:C:G
Gene:: AGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177437682C>G, NC_000004.11:g.178358836C>G, NG_011845.2:g.9822G>C

Select item 148851902417.

rs1488519024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:177435959 (GRCh38)
4:178357113 (GRCh37)
Canonical SPDI:: NC_000004.12:177435958:T:C
Gene:: AGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
C=0.00068/2 (KOREAN)
HGVS:: NC_000004.12:g.177435959T>C, NC_000004.11:g.178357113T>C, NG_011845.2:g.11545A>G

Select item 148834700118.

rs1488347001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:177432287 (GRCh38)
4:178353441 (GRCh37)
Canonical SPDI:: NC_000004.12:177432286:A:C
Gene:: AGA (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.177432287A>C, NC_000004.11:g.178353441A>C, NG_011845.2:g.15217T>G

Select item 148822000219.

rs1488220002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:177436295 (GRCh38)
4:178357449 (GRCh37)
Canonical SPDI:: NC_000004.12:177436294:T:C
Gene:: AGA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177436295T>C, NC_000004.11:g.178357449T>C, NG_011845.2:g.11209A>G, NM_000027.4:c.679A>G, NM_000027.3:c.679A>G, NP_000018.2:p.Ile227Val

Select item 148813441120.

rs1488134411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:177430867 (GRCh38)
4:178352021 (GRCh37)
Canonical SPDI:: NC_000004.12:177430866:C:T
Gene:: AGA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000031/4 (GnomAD_exomes)
HGVS:: NC_000004.12:g.177430867C>T, NC_000004.11:g.178352021C>T, NG_011845.2:g.16637G>A, NM_000027.4:c.*841G>A, NM_000027.3:c.*841G>A, NM_001171988.2:c.*841G>A, NM_001171988.1:c.*841G>A, NR_033655.2:n.1868G>A, NR_033655.1:n.1934G>A

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