SNP Links for Gene (Select 374872) - SNP

Links from Gene

Items: 1 to 20 of 3073

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Select item 14914699111.

rs1491469911 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:2274954 (GRCh38)
19:2274953 (GRCh37)
Canonical SPDI:: NC_000019.10:2274952:AGA:A
Gene:: PEAK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000337/4 (ALFA)
-=0.000428/52 (GnomAD)
HGVS:: NC_000019.10:g.2274954_2274955del, NC_000019.9:g.2274953_2274954del, NM_198532.3:c.*726_*727del, NM_198532.2:c.*726_*727del

Select item 14913582282.

rs1491358228 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:2274931 (GRCh38)
19:2274930 (GRCh37)
Canonical SPDI:: NC_000019.10:2274930:CA:
Gene:: PEAK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00254/1 (NorthernSweden)
-=0.0116/43 (TWINSUK)
-=0.01245/48 (ALSPAC)
HGVS:: NC_000019.10:g.2274931_2274932del, NC_000019.9:g.2274930_2274931del, NM_198532.3:c.*748_*749del, NM_198532.2:c.*748_*749del

Select item 14904077553.

rs1490407755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2280459 (GRCh38)
19:2280458 (GRCh37)
Canonical SPDI:: NC_000019.10:2280458:C:T
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2280459C>T, NC_000019.9:g.2280458C>T

Select item 14904015324.

rs1490401532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2276659 (GRCh38)
19:2276658 (GRCh37)
Canonical SPDI:: NC_000019.10:2276658:A:G
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2276659A>G, NC_000019.9:g.2276658A>G

Select item 14903503615.

rs1490350361 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 19:2277498 (GRCh38)
19:2277497 (GRCh37)
Canonical SPDI:: NC_000019.10:2277497:TTTT:TTT,NC_000019.10:2277497:TTTT:TTTTT
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2277501del, NC_000019.10:g.2277501dup, NC_000019.9:g.2277500del, NC_000019.9:g.2277500dup

Select item 14902739236.

rs1490273923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2278292 (GRCh38)
19:2278291 (GRCh37)
Canonical SPDI:: NC_000019.10:2278291:G:A
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2278292G>A, NC_000019.9:g.2278291G>A

Select item 14902440447.

rs1490244044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2279641 (GRCh38)
19:2279640 (GRCh37)
Canonical SPDI:: NC_000019.10:2279640:G:A,NC_000019.10:2279640:G:C
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000685/2 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.2279641G>A, NC_000019.10:g.2279641G>C, NC_000019.9:g.2279640G>A, NC_000019.9:g.2279640G>C

Select item 14894635528.

rs1489463552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2281097 (GRCh38)
19:2281096 (GRCh37)
Canonical SPDI:: NC_000019.10:2281096:G:A
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2281097G>A, NC_000019.9:g.2281096G>A

Select item 14891197459.

rs1489119745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2277808 (GRCh38)
19:2277807 (GRCh37)
Canonical SPDI:: NC_000019.10:2277807:G:T
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_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_000019.10:g.2277808G>T, NC_000019.9:g.2277807G>T

Select item 148869276210.

rs1488692762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2279814 (GRCh38)
19:2279813 (GRCh37)
Canonical SPDI:: NC_000019.10:2279813:A:G
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00018/3 (TOMMO)
HGVS:: NC_000019.10:g.2279814A>G, NC_000019.9:g.2279813A>G

Select item 148841246511.

rs1488412465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2284180 (GRCh38)
19:2284179 (GRCh37)
Canonical SPDI:: NC_000019.10:2284179:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2284180A>G, NC_000019.9:g.2284179A>G

Select item 148836377212.

rs1488363772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:2274851 (GRCh38)
19:2274850 (GRCh37)
Canonical SPDI:: NC_000019.10:2274850:A:C
Gene:: PEAK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.2274851A>C, NC_000019.9:g.2274850A>C, NM_198532.3:c.*829T>G, NM_198532.2:c.*829T>G

Select item 148833423513.

rs1488334235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2275327 (GRCh38)
19:2275326 (GRCh37)
Canonical SPDI:: NC_000019.10:2275326:C:T
Gene:: PEAK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.2275327C>T, NC_000019.9:g.2275326C>T, NM_198532.3:c.*353G>A, NM_198532.2:c.*353G>A

Select item 148808178514.

rs1488081785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2283754 (GRCh38)
19:2283753 (GRCh37)
Canonical SPDI:: NC_000019.10:2283753:G:T
Gene:: PEAK3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.2283754G>T, NC_000019.9:g.2283753G>T

Select item 148790678615.

rs1487906786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:2276491 (GRCh38)
19:2276490 (GRCh37)
Canonical SPDI:: NC_000019.10:2276490:T:A
Gene:: PEAK3 (Varview)
Functional Consequence:: splice_acceptor_variant
HGVS:: NC_000019.10:g.2276491T>A, NC_000019.9:g.2276490T>A

Select item 148780255016.

rs1487802550 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCTCCCCTGCCCGCC>- [Show Flanks]
Chromosome:: 19:2282283 (GRCh38)
19:2282282 (GRCh37)
Canonical SPDI:: NC_000019.10:2282277:CCGCCGCCTCCCCTGCCCGCC:CCGCC
Gene:: PEAK3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCC=0.000498/7 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000529/140 (TOPMED)
-=0.000713/100 (GnomAD)
HGVS:: NC_000019.10:g.2282283_2282298del, NC_000019.9:g.2282282_2282297del

Select item 148701848017.

rs1487018480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2276957 (GRCh38)
19:2276956 (GRCh37)
Canonical SPDI:: NC_000019.10:2276956:A:G
Gene:: PEAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2276957A>G, NC_000019.9:g.2276956A>G

Select item 148695544618.

rs1486955446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2275840 (GRCh38)
19:2275839 (GRCh37)
Canonical SPDI:: NC_000019.10:2275839:C:T
Gene:: PEAK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2275840C>T, NC_000019.9:g.2275839C>T, NM_198532.3:c.1262G>A, NM_198532.2:c.1262G>A, NP_940934.1:p.Gly421Glu

Select item 148692996019.

rs1486929960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2276244 (GRCh38)
19:2276243 (GRCh37)
Canonical SPDI:: NC_000019.10:2276243:C:T
Gene:: PEAK3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/7 (GnomAD_exomes)
T=0.000171/24 (GnomAD)
T=0.000215/57 (TOPMED)
HGVS:: NC_000019.10:g.2276244C>T, NC_000019.9:g.2276243C>T, NM_198532.3:c.858G>A, NM_198532.2:c.858G>A

Select item 148687625120.

rs1486876251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:2275778 (GRCh38)
19:2275777 (GRCh37)
Canonical SPDI:: NC_000019.10:2275777:C:A
Gene:: PEAK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2275778C>A, NC_000019.9:g.2275777C>A, NM_198532.3:c.1324G>T, NM_198532.2:c.1324G>T, NP_940934.1:p.Gly442Trp

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