SNP Links for Gene (Select 6288) - SNP

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Select item 14914184971.

rs1491418497 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:18265149 (GRCh38)
11:18286696 (GRCh37)
Canonical SPDI:: NC_000011.10:18265148:AA:
Gene:: SAA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000035/4 (GnomAD)
-=0.000037/1 (TOMMO)
HGVS:: NC_000011.10:g.18265149_18265150del, NC_000011.9:g.18286696_18286697del, NG_021330.1:g.3889_3890del, NW_021160006.1:g.13975_13976del

Select item 14913895542.

rs1491389554 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 11:18265149 (GRCh38)
11:18286697 (GRCh37)
Canonical SPDI:: NC_000011.10:18265149::GG
Gene:: SAA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: GG=0.000248/28 (GnomAD)
GG=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.18265149_18265150insGG, NC_000011.9:g.18286696_18286697insGG, NG_021330.1:g.3889_3890insGG, NW_021160006.1:g.13975_13976insGG

Select item 14904194933.

rs1490419493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:18267139 (GRCh38)
11:18288686 (GRCh37)
Canonical SPDI:: NC_000011.10:18267138:T:A
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.18267139T>A, NC_000011.9:g.18288686T>A, NG_021330.1:g.5879T>A, NW_021160006.1:g.15965T>A

Select item 14895452204.

rs1489545220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18269626 (GRCh38)
11:18291173 (GRCh37)
Canonical SPDI:: NC_000011.10:18269625:T:C
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18269626T>C, NC_000011.9:g.18291173T>C, NG_021330.1:g.8366T>C, NW_021160006.1:g.18452T>C

Select item 14893540515.

rs1489354051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:18268694 (GRCh38)
11:18290241 (GRCh37)
Canonical SPDI:: NC_000011.10:18268693:G:A
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000011.10:g.18268694G>A, NC_000011.9:g.18290241G>A, NG_021330.1:g.7434G>A, NW_021160006.1:g.17520G>A

Select item 14887844076.

rs1488784407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:18264539 (GRCh38)
11:18286086 (GRCh37)
Canonical SPDI:: NC_000011.10:18264538:T:G
Gene:: SAA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.18264539T>G, NC_000011.9:g.18286086T>G, NG_021330.1:g.3279T>G, NW_021160006.1:g.13365T>G

Select item 14884304327.

rs1488430432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:18269893 (GRCh38)
11:18291440 (GRCh37)
Canonical SPDI:: NC_000011.10:18269892:G:C
Gene:: SAA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18269893G>C, NC_000011.9:g.18291440G>C, NG_021330.1:g.8633G>C, NM_000331.6:c.*38G>C, NM_000331.5:c.*38G>C, NM_000331.4:c.*38G>C, NM_199161.5:c.*38G>C, NM_199161.4:c.*38G>C, NM_199161.3:c.*38G>C, NM_001178006.3:c.*38G>C, NM_001178006.2:c.*38G>C, NM_001178006.1:c.*38G>C, NW_021160006.1:g.18719G>C

Select item 14881749268.

rs1488174926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:18270358 (GRCh38)
11:18291905 (GRCh37)
Canonical SPDI:: NC_000011.10:18270357:C:T
Gene:: SAA1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.18270358C>T, NC_000011.9:g.18291905C>T, NG_021330.1:g.9098C>T, NW_021160006.1:g.19184C>T

Select item 14879989099.

rs1487998909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:18264799 (GRCh38)
11:18286346 (GRCh37)
Canonical SPDI:: NC_000011.10:18264798:G:A
Gene:: SAA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.18264799G>A, NC_000011.9:g.18286346G>A, NG_021330.1:g.3539G>A, NW_021160006.1:g.13625G>A

Select item 148782802810.

rs1487828028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:18267540 (GRCh38)
11:18289087 (GRCh37)
Canonical SPDI:: NC_000011.10:18267539:G:A,NC_000011.10:18267539:G:T
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000061/7 (GnomAD)
HGVS:: NC_000011.10:g.18267540G>A, NC_000011.10:g.18267540G>T, NC_000011.9:g.18289087G>A, NC_000011.9:g.18289087G>T, NG_021330.1:g.6280G>A, NG_021330.1:g.6280G>T, NW_021160006.1:g.16366G>A, NW_021160006.1:g.16366G>T

Select item 148717818311.

rs1487178183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:18266567 (GRCh38)
11:18288114 (GRCh37)
Canonical SPDI:: NC_000011.10:18266566:G:A,NC_000011.10:18266566:G:C
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.00008/11 (GnomAD)
HGVS:: NC_000011.10:g.18266567G>A, NC_000011.10:g.18266567G>C, NC_000011.9:g.18288114G>A, NC_000011.9:g.18288114G>C, NG_021330.1:g.5307G>A, NG_021330.1:g.5307G>C, NG_046323.1:g.272G>A, NG_046323.1:g.272G>C, NW_021160006.1:g.15393G>A, NW_021160006.1:g.15393G>C

Select item 148693944812.

rs1486939448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:18269659 (GRCh38)
11:18291206 (GRCh37)
Canonical SPDI:: NC_000011.10:18269658:G:A
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18269659G>A, NC_000011.9:g.18291206G>A, NG_021330.1:g.8399G>A, NW_021160006.1:g.18485G>A

Select item 148671183213.

rs1486711832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:18268832 (GRCh38)
11:18290379 (GRCh37)
Canonical SPDI:: NC_000011.10:18268831:A:C,NC_000011.10:18268831:A:G,NC_000011.10:18268831:A:T
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (SGDP_PRJ)
T=0.00011/2 (TOMMO)
G=0.00014/1 (GnomAD)
HGVS:: NC_000011.10:g.18268832A>C, NC_000011.10:g.18268832A>G, NC_000011.10:g.18268832A>T, NC_000011.9:g.18290379A>C, NC_000011.9:g.18290379A>G, NC_000011.9:g.18290379A>T, NG_021330.1:g.7572A>C, NG_021330.1:g.7572A>G, NG_021330.1:g.7572A>T, NW_021160006.1:g.17658A>C, NW_021160006.1:g.17658A>G, NW_021160006.1:g.17658A>T

Select item 148665816414.

rs1486658164 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148660511615.

rs1486605116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:18269116 (GRCh38)
11:18290663 (GRCh37)
Canonical SPDI:: NC_000011.10:18269115:C:T
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.18269116C>T, NC_000011.9:g.18290663C>T, NG_021330.1:g.7856C>T, NW_021160006.1:g.17942C>T

Select item 148530384716.

rs1485303847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18269255 (GRCh38)
11:18290802 (GRCh37)
Canonical SPDI:: NC_000011.10:18269254:A:G
Gene:: SAA1 (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_000011.10:g.18269255A>G, NC_000011.9:g.18290802A>G, NG_021330.1:g.7995A>G, NM_000331.6:c.152A>G, NM_000331.5:c.152A>G, NM_000331.4:c.152A>G, NM_199161.5:c.152A>G, NM_199161.4:c.152A>G, NM_199161.3:c.152A>G, NM_001178006.3:c.152A>G, NM_001178006.2:c.152A>G, NM_001178006.1:c.152A>G, NW_021160006.1:g.18081A>G, NP_000322.3:p.Asp51Gly, NP_954630.2:p.Asp51Gly, NP_001171477.2:p.Asp51Gly

Select item 148390219617.

rs1483902196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:18265772 (GRCh38)
11:18287319 (GRCh37)
Canonical SPDI:: NC_000011.10:18265771:G:C
Gene:: SAA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.18265772G>C, NC_000011.9:g.18287319G>C, NG_021330.1:g.4512G>C, NW_021160006.1:g.14598G>C

Select item 148347560818.

rs1483475608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18269386 (GRCh38)
11:18290933 (GRCh37)
Canonical SPDI:: NC_000011.10:18269385:T:C
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00007/2 (TOMMO)
HGVS:: NC_000011.10:g.18269386T>C, NC_000011.9:g.18290933T>C, NG_021330.1:g.8126T>C, NW_021160006.1:g.18212T>C

Select item 148282393719.

rs1482823937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:18266333 (GRCh38)
11:18287880 (GRCh37)
Canonical SPDI:: NC_000011.10:18266332:C:T
Gene:: SAA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.18266333C>T, NC_000011.9:g.18287880C>T, NG_021330.1:g.5073C>T, NM_000331.6:c.-115C>T, NM_000331.5:c.-115C>T, NM_000331.4:c.-115C>T, NG_046323.1:g.38C>T, NW_021160006.1:g.15159C>T

Select item 148276213020.

rs1482762130 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18266719 (GRCh38)
11:18288266 (GRCh37)
Canonical SPDI:: NC_000011.10:18266718:A:G
Gene:: SAA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.18266719A>G, NC_000011.9:g.18288266A>G, NG_021330.1:g.5459A>G, NW_021160006.1:g.15545A>G

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