SNP Links for Nucleotide (Select 998614224) - SNP

Links from Nucleotide

Items: 1 to 20 of 768

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Select item 14914627081.

rs1491462708 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:22821047 (GRCh38)
11:22842593 (GRCh37)
Canonical SPDI:: NC_000011.10:22821046:AT:
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000569/8 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.000501/69 (GnomAD)
HGVS:: NC_000011.10:g.22821047_22821048del, NC_000011.9:g.22842593_22842594del, NM_148893.3:c.*2071_*2072del, NM_148893.2:c.*2071_*2072del, NM_001320342.3:c.*2064_*2065del, NM_001320342.2:c.*2064_*2065del, NM_001320342.1:c.*2064_*2065del, NM_001320340.1:c.*2071_*2072del, NR_135213.1:n.2374_2375del

Select item 14888440282.

rs1488844028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:22820482 (GRCh38)
11:22842028 (GRCh37)
Canonical SPDI:: NC_000011.10:22820481:T:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000011.10:g.22820482T>C, NC_000011.9:g.22842028T>C, NM_148893.3:c.*2637A>G, NM_148893.2:c.*2637A>G, NM_001320342.3:c.*2630A>G, NM_001320342.2:c.*2630A>G, NM_001320342.1:c.*2630A>G, NM_001320340.1:c.*2637A>G, NR_135213.1:n.2940A>G

Select item 14836665353.

rs1483666535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:22820774 (GRCh38)
11:22842320 (GRCh37)
Canonical SPDI:: NC_000011.10:22820773:A:G
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.22820774A>G, NC_000011.9:g.22842320A>G, NM_148893.3:c.*2345T>C, NM_148893.2:c.*2345T>C, NM_001320342.3:c.*2338T>C, NM_001320342.2:c.*2338T>C, NM_001320342.1:c.*2338T>C, NM_001320340.1:c.*2345T>C, NR_135213.1:n.2648T>C

Select item 14833925574.

rs1483392557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:22829354 (GRCh38)
11:22850900 (GRCh37)
Canonical SPDI:: NC_000011.10:22829353:T:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.22829354T>C, NC_000011.9:g.22850900T>C, NM_001320340.1:c.1A>G, NR_135213.1:n.26A>G, NP_001307269.1:p.Met1Val

Select item 14830164905.

rs1483016490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:22821665 (GRCh38)
11:22843211 (GRCh37)
Canonical SPDI:: NC_000011.10:22821664:T:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.22821665T>C, NC_000011.9:g.22843211T>C, NM_148893.3:c.*1454A>G, NM_148893.2:c.*1454A>G, NM_001320342.3:c.*1447A>G, NM_001320342.2:c.*1447A>G, NM_001320342.1:c.*1447A>G, NM_001320340.1:c.*1454A>G, NR_135213.1:n.1757A>G

Select item 14816187106.

rs1481618710 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 11:22820574 (GRCh38)
11:22842120 (GRCh37)
Canonical SPDI:: NC_000011.10:22820572:ATAA:A
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.22820574_22820576del, NC_000011.9:g.22842120_22842122del, NM_148893.3:c.*2544_*2546del, NM_148893.2:c.*2544_*2546del, NM_001320342.3:c.*2537_*2539del, NM_001320342.2:c.*2537_*2539del, NM_001320342.1:c.*2537_*2539del, NM_001320340.1:c.*2544_*2546del, NR_135213.1:n.2847_2849del

Select item 14813700287.

rs1481370028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:22820474 (GRCh38)
11:22842020 (GRCh37)
Canonical SPDI:: NC_000011.10:22820473:T:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.22820474T>C, NC_000011.9:g.22842020T>C, NM_148893.3:c.*2645A>G, NM_148893.2:c.*2645A>G, NM_001320342.3:c.*2638A>G, NM_001320342.2:c.*2638A>G, NM_001320342.1:c.*2638A>G, NM_001320340.1:c.*2645A>G, NR_135213.1:n.2948A>G

Select item 14809330378.

rs1480933037 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAAGT>- [Show Flanks]
Chromosome:: 11:22829487 (GRCh38)
11:22851033 (GRCh37)
Canonical SPDI:: NC_000011.10:22829486:AAAAGT:
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00257/42 (ALFA)
-=0.00018/5 (TOMMO)
-=0.00819/15 (Korea1K)
HGVS:: NC_000011.10:g.22829487_22829492del, NC_000011.9:g.22851033_22851038del, NM_001320340.1:c.-138_-133del

Select item 14792556939.

rs1479255693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:22821530 (GRCh38)
11:22843076 (GRCh37)
Canonical SPDI:: NC_000011.10:22821529:G:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000011.10:g.22821530G>C, NC_000011.9:g.22843076G>C, NM_148893.3:c.*1589C>G, NM_148893.2:c.*1589C>G, NM_001320342.3:c.*1582C>G, NM_001320342.2:c.*1582C>G, NM_001320342.1:c.*1582C>G, NM_001320340.1:c.*1589C>G, NR_135213.1:n.1892C>G

Select item 147889962010.

rs1478899620 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:22821058 (GRCh38)
11:22842604 (GRCh37)
Canonical SPDI:: NC_000011.10:22821057:T:
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.22821058del, NC_000011.9:g.22842604del, NM_148893.3:c.*2061del, NM_148893.2:c.*2061del, NM_001320342.3:c.*2054del, NM_001320342.2:c.*2054del, NM_001320342.1:c.*2054del, NM_001320340.1:c.*2061del, NR_135213.1:n.2364del

Select item 147861220411.

rs1478612204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:22829455 (GRCh38)
11:22851001 (GRCh37)
Canonical SPDI:: NC_000011.10:22829454:G:A,NC_000011.10:22829454:G:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.22829455G>A, NC_000011.10:g.22829455G>C, NC_000011.9:g.22851001G>A, NC_000011.9:g.22851001G>C, NM_001320340.1:c.-101C>T, NM_001320340.1:c.-101C>G

Select item 147834561512.

rs1478345615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:22821368 (GRCh38)
11:22842914 (GRCh37)
Canonical SPDI:: NC_000011.10:22821367:C:T
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.22821368C>T, NC_000011.9:g.22842914C>T, NM_148893.3:c.*1751G>A, NM_148893.2:c.*1751G>A, NM_001320342.3:c.*1744G>A, NM_001320342.2:c.*1744G>A, NM_001320342.1:c.*1744G>A, NM_001320340.1:c.*1751G>A, NR_135213.1:n.2054G>A

Select item 147791405113.

rs1477914051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:22820567 (GRCh38)
11:22842113 (GRCh37)
Canonical SPDI:: NC_000011.10:22820566:G:C,NC_000011.10:22820566:G:T
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.22820567G>C, NC_000011.10:g.22820567G>T, NC_000011.9:g.22842113G>C, NC_000011.9:g.22842113G>T, NM_148893.3:c.*2552C>G, NM_148893.3:c.*2552C>A, NM_148893.2:c.*2552C>G, NM_148893.2:c.*2552C>A, NM_001320342.3:c.*2545C>G, NM_001320342.3:c.*2545C>A, NM_001320342.2:c.*2545C>G, NM_001320342.2:c.*2545C>A, NM_001320342.1:c.*2545C>G, NM_001320342.1:c.*2545C>A, NM_001320340.1:c.*2552C>G, NM_001320340.1:c.*2552C>A, NR_135213.1:n.2855C>G, NR_135213.1:n.2855C>A

Select item 147671149314.

rs1476711493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:22821835 (GRCh38)
11:22843381 (GRCh37)
Canonical SPDI:: NC_000011.10:22821834:T:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000011.10:g.22821835T>C, NC_000011.9:g.22843381T>C, NM_148893.3:c.*1284A>G, NM_148893.2:c.*1284A>G, NM_001320342.3:c.*1277A>G, NM_001320342.2:c.*1277A>G, NM_001320342.1:c.*1277A>G, NM_001320340.1:c.*1284A>G, NR_135213.1:n.1587A>G

Select item 147532635415.

rs1475326354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:22829383 (GRCh38)
11:22850929 (GRCh37)
Canonical SPDI:: NC_000011.10:22829382:G:T
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.22829383G>T, NC_000011.9:g.22850929G>T, NM_001320340.1:c.-29C>A

Select item 147479220316.

rs1474792203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:22820464 (GRCh38)
11:22842010 (GRCh37)
Canonical SPDI:: NC_000011.10:22820463:C:T
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.22820464C>T, NC_000011.9:g.22842010C>T, NM_148893.3:c.*2655G>A, NM_148893.2:c.*2655G>A, NM_001320342.3:c.*2648G>A, NM_001320342.2:c.*2648G>A, NM_001320342.1:c.*2648G>A, NM_001320340.1:c.*2655G>A, NR_135213.1:n.2958G>A

Select item 147367099517.

rs1473670995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:22821762 (GRCh38)
11:22843308 (GRCh37)
Canonical SPDI:: NC_000011.10:22821761:A:C
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.22821762A>C, NC_000011.9:g.22843308A>C, NM_148893.3:c.*1357T>G, NM_148893.2:c.*1357T>G, NM_001320342.3:c.*1350T>G, NM_001320342.2:c.*1350T>G, NM_001320342.1:c.*1350T>G, NM_001320340.1:c.*1357T>G, NR_135213.1:n.1660T>G

Select item 147364518818.

rs1473645188 [Homo sapiens]

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

Select item 147256759719.

rs1472567597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:22827837 (GRCh38)
11:22849383 (GRCh37)
Canonical SPDI:: NC_000011.10:22827836:C:T
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.22827837C>T, NC_000011.9:g.22849383C>T, NM_148893.3:c.92G>A, NM_148893.2:c.92G>A, NM_148893.1:c.92G>A, NM_001320342.3:c.92G>A, NM_001320342.2:c.92G>A, NM_001320342.1:c.92G>A, NM_001320341.3:c.92G>A, NM_001320341.2:c.92G>A, NM_001320341.1:c.92G>A, NM_001320340.1:c.98G>A, NR_135213.1:n.161G>A, NP_683691.1:p.Arg31Lys, NP_001307271.1:p.Arg31Lys, NP_001307270.1:p.Arg31Lys, NP_001307269.1:p.Arg33Lys

Select item 147201335720.

rs1472013357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:22827848 (GRCh38)
11:22849394 (GRCh37)
Canonical SPDI:: NC_000011.10:22827847:C:A
Gene:: GAS2 (Varview), SVIP (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.22827848C>A, NC_000011.9:g.22849394C>A, NM_148893.3:c.81G>T, NM_148893.2:c.81G>T, NM_148893.1:c.81G>T, NM_001320342.3:c.81G>T, NM_001320342.2:c.81G>T, NM_001320342.1:c.81G>T, NM_001320341.3:c.81G>T, NM_001320341.2:c.81G>T, NM_001320341.1:c.81G>T, NM_001320340.1:c.87G>T, NR_135213.1:n.150G>T, NP_683691.1:p.Glu27Asp, NP_001307271.1:p.Glu27Asp, NP_001307270.1:p.Glu27Asp, NP_001307269.1:p.Glu29Asp

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