SNP Links for Gene (Select 2812) - SNP

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Select item 14902186121.

rs1490218612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:19721879 (GRCh38)
22:19709402 (GRCh37)
Canonical SPDI:: NC_000022.11:19721878:A:T
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.19721879A>T, NC_000022.10:g.19709402A>T, NG_007974.1:g.3337A>T, NM_002688.6:c.872A>T, NM_002688.5:c.872A>T, NM_001009939.3:c.888A>T, NM_001009939.2:c.888A>T, NR_037611.1:n.2417A>T, NR_037612.1:n.921A>T, NP_002679.2:p.His291Leu

Select item 14883916482.

rs1488391648 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 22:19723804 (GRCh38)
22:19711327 (GRCh37)
Canonical SPDI:: NC_000022.11:19723803:C:
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19723804del, NC_000022.10:g.19711327del, NG_007974.1:g.5262del

Select item 14878467243.

rs1487846724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19724468 (GRCh38)
22:19711991 (GRCh37)
Canonical SPDI:: NC_000022.11:19724467:G:A
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000022.11:g.19724468G>A, NC_000022.10:g.19711991G>A, NG_007974.1:g.5926G>A, NM_000407.5:c.*4G>A, NM_000407.4:c.*4G>A, NR_037611.1:n.4365G>A, NR_037612.1:n.2869G>A

Select item 14877533644.

rs1487753364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:19724594 (GRCh38)
22:19712117 (GRCh37)
Canonical SPDI:: NC_000022.11:19724593:T:G
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000022.11:g.19724594T>G, NC_000022.10:g.19712117T>G, NG_007974.1:g.6052T>G, NM_000407.5:c.*130T>G, NM_000407.4:c.*130T>G, NR_037611.1:n.4491T>G, NR_037612.1:n.2995T>G

Select item 14877343985.

rs1487734398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:19724328 (GRCh38)
22:19711851 (GRCh37)
Canonical SPDI:: NC_000022.11:19724327:T:A
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.19724328T>A, NC_000022.10:g.19711851T>A, NG_007974.1:g.5786T>A, NM_000407.5:c.485T>A, NM_000407.4:c.485T>A, NR_037611.1:n.4225T>A, NR_037612.1:n.2729T>A, NP_000398.1:p.Leu162Gln

Select item 14872168446.

rs1487216844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCCTGAGGAGAGAACCGGCGC [Show Flanks]
Chromosome:: 22:19724477 (GRCh38)
22:19712001 (GRCh37)
Canonical SPDI:: NC_000022.11:19724477:GCGTCCTGAGGAGAGAACCGGCGC:GCGTCCTGAGGAGAGAACCGGCGCGTCCTGAGGAGAGAACCGGCGC
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGTCCTGAGGAGAGAACCGGCGCGTCCTGAGGAGAGAACCGGCGC=0./0 (ALFA)
GCGTCCTGAGGAGAGAACCGGC=0.000004/1 (TOPMED)
GCGTCCTGAGGAGAGAACCGGC=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19724480_19724501dup, NC_000022.10:g.19712003_19712024dup, NG_007974.1:g.5938_5959dup, NM_000407.5:c.*16_*37dup, NM_000407.4:c.*16_*37dup, NR_037611.1:n.4377_4398dup, NR_037612.1:n.2881_2902dup

Select item 14867399057.

rs1486739905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:19723965 (GRCh38)
22:19711488 (GRCh37)
Canonical SPDI:: NC_000022.11:19723964:G:A,NC_000022.11:19723964:G:T
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000446/2 (Estonian)
HGVS:: NC_000022.11:g.19723965G>A, NC_000022.11:g.19723965G>T, NC_000022.10:g.19711488G>A, NC_000022.10:g.19711488G>T, NG_007974.1:g.5423G>A, NG_007974.1:g.5423G>T, NM_000407.5:c.122G>A, NM_000407.5:c.122G>T, NM_000407.4:c.122G>A, NM_000407.4:c.122G>T, NR_037611.1:n.3862G>A, NR_037611.1:n.3862G>T, NR_037612.1:n.2366G>A, NR_037612.1:n.2366G>T, NP_000398.1:p.Arg41His, NP_000398.1:p.Arg41Leu

Select item 14864388428.

rs1486438842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19723332 (GRCh38)
22:19710855 (GRCh37)
Canonical SPDI:: NC_000022.11:19723331:C:G,NC_000022.11:19723331:C:T
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19723332C>G, NC_000022.11:g.19723332C>T, NC_000022.10:g.19710855C>G, NC_000022.10:g.19710855C>T, NG_007974.1:g.4790C>G, NG_007974.1:g.4790C>T, NR_037611.1:n.3503C>G, NR_037611.1:n.3503C>T, NR_037612.1:n.2007C>G, NR_037612.1:n.2007C>T

Select item 14863857779.

rs1486385777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:19723888 (GRCh38)
22:19711411 (GRCh37)
Canonical SPDI:: NC_000022.11:19723887:G:A,NC_000022.11:19723887:G:C
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19723888G>A, NC_000022.11:g.19723888G>C, NC_000022.10:g.19711411G>A, NC_000022.10:g.19711411G>C, NG_007974.1:g.5346G>A, NG_007974.1:g.5346G>C, NM_000407.5:c.45G>A, NM_000407.5:c.45G>C, NM_000407.4:c.45G>A, NM_000407.4:c.45G>C, NR_037611.1:n.3785G>A, NR_037611.1:n.3785G>C, NR_037612.1:n.2289G>A, NR_037612.1:n.2289G>C

Select item 148596749010.

rs1485967490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19722846 (GRCh38)
22:19710369 (GRCh37)
Canonical SPDI:: NC_000022.11:19722845:G:A
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19722846G>A, NC_000022.10:g.19710369G>A, NG_007974.1:g.4304G>A, NM_002688.6:c.*362G>A, NM_002688.5:c.*362G>A, NM_001009939.3:c.*447G>A, NM_001009939.2:c.*447G>A, NR_037611.1:n.3017G>A, NR_037612.1:n.1521G>A

Select item 148533861011.

rs1485338610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19723391 (GRCh38)
22:19710914 (GRCh37)
Canonical SPDI:: NC_000022.11:19723390:T:C
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19723391T>C, NC_000022.10:g.19710914T>C, NG_007974.1:g.4849T>C, NR_037611.1:n.3562T>C, NR_037612.1:n.2066T>C

Select item 148482537012.

rs1484825370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19722223 (GRCh38)
22:19709746 (GRCh37)
Canonical SPDI:: NC_000022.11:19722222:C:G,NC_000022.11:19722222:C:T
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.067227/32 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19722223C>G, NC_000022.11:g.19722223C>T, NC_000022.10:g.19709746C>G, NC_000022.10:g.19709746C>T, NG_007974.1:g.3681C>G, NG_007974.1:g.3681C>T

Select item 148408770313.

rs1484087703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19724556 (GRCh38)
22:19712079 (GRCh37)
Canonical SPDI:: NC_000022.11:19724555:C:A
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.19724556C>A, NC_000022.10:g.19712079C>A, NG_007974.1:g.6014C>A, NM_000407.5:c.*92C>A, NM_000407.4:c.*92C>A, NR_037611.1:n.4453C>A, NR_037612.1:n.2957C>A

Select item 148384944214.

rs1483849442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:19721779 (GRCh38)
22:19709302 (GRCh37)
Canonical SPDI:: NC_000022.11:19721778:G:C
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19721779G>C, NC_000022.10:g.19709302G>C, NG_007974.1:g.3237G>C

Select item 148333613815.

rs1483336138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19723312 (GRCh38)
22:19710835 (GRCh37)
Canonical SPDI:: NC_000022.11:19723311:T:C
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19723312T>C, NC_000022.10:g.19710835T>C, NG_007974.1:g.4770T>C, NM_002688.6:c.*828T>C, NM_002688.5:c.*828T>C, NM_001009939.3:c.*913T>C, NM_001009939.2:c.*913T>C, NR_037611.1:n.3483T>C, NR_037612.1:n.1987T>C

Select item 148229788116.

rs1482297881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19723969 (GRCh38)
22:19711492 (GRCh37)
Canonical SPDI:: NC_000022.11:19723968:C:T
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19723969C>T, NC_000022.10:g.19711492C>T, NG_007974.1:g.5427C>T, NM_000407.5:c.126C>T, NM_000407.4:c.126C>T, NR_037611.1:n.3866C>T, NR_037612.1:n.2370C>T

Select item 148137738617.

rs1481377386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19723188 (GRCh38)
22:19710711 (GRCh37)
Canonical SPDI:: NC_000022.11:19723187:C:T
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19723188C>T, NC_000022.10:g.19710711C>T, NG_007974.1:g.4646C>T, NM_002688.6:c.*704C>T, NM_002688.5:c.*704C>T, NM_001009939.3:c.*789C>T, NM_001009939.2:c.*789C>T, NR_037611.1:n.3359C>T, NR_037612.1:n.1863C>T

Select item 148068427618.

rs1480684276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19721618 (GRCh38)
22:19709141 (GRCh37)
Canonical SPDI:: NC_000022.11:19721617:C:T
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.19721618C>T, NC_000022.10:g.19709141C>T, NG_007974.1:g.3076C>T

Select item 147970402119.

rs1479704021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19722743 (GRCh38)
22:19710266 (GRCh37)
Canonical SPDI:: NC_000022.11:19722742:C:A,NC_000022.11:19722742:C:T
Gene:: GP1BB (Varview), SEPTIN5 (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.19722743C>A, NC_000022.11:g.19722743C>T, NC_000022.10:g.19710266C>A, NC_000022.10:g.19710266C>T, NG_007974.1:g.4201C>A, NG_007974.1:g.4201C>T, NM_002688.6:c.*259C>A, NM_002688.6:c.*259C>T, NM_002688.5:c.*259C>A, NM_002688.5:c.*259C>T, NM_001009939.3:c.*344C>A, NM_001009939.3:c.*344C>T, NM_001009939.2:c.*344C>A, NM_001009939.2:c.*344C>T, NR_037611.1:n.2914C>A, NR_037611.1:n.2914C>T, NR_037612.1:n.1418C>A, NR_037612.1:n.1418C>T

Select item 147968983220.

rs1479689832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:19725253 (GRCh38)
22:19712776 (GRCh37)
Canonical SPDI:: NC_000022.11:19725252:G:A,NC_000022.11:19725252:G:C,NC_000022.11:19725252:G:T
Gene:: GP1BB (Varview), SEPT5-GP1BB (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000675/19 (TOMMO)
HGVS:: NC_000022.11:g.19725253G>A, NC_000022.11:g.19725253G>C, NC_000022.11:g.19725253G>T, NC_000022.10:g.19712776G>A, NC_000022.10:g.19712776G>C, NC_000022.10:g.19712776G>T, NG_007974.1:g.6711G>A, NG_007974.1:g.6711G>C, NG_007974.1:g.6711G>T

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