SNP Links for Gene (Select 92840) - SNP

Links from Gene

Items: 1 to 20 of 3109

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Select item 14913690151.

rs1491369015 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:1496237 (GRCh38)
19:1496236 (GRCh37)
Canonical SPDI:: NC_000019.10:1496234:GGGG:GG
Gene:: REEP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000019.10:g.1496237_1496238del, NC_000019.9:g.1496236_1496237del, NG_055254.1:g.10233_10234del

Select item 14906964092.

rs1490696409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:1489457 (GRCh38)
19:1489456 (GRCh37)
Canonical SPDI:: NC_000019.10:1489456:A:C,NC_000019.10:1489456:A:G
Gene:: PCSK4 (Varview), REEP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1489457A>C, NC_000019.10:g.1489457A>G, NC_000019.9:g.1489456A>C, NC_000019.9:g.1489456A>G, NG_055254.1:g.3453A>C, NG_055254.1:g.3453A>G

Select item 14906297753.

rs1490629775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1490583 (GRCh38)
19:1490582 (GRCh37)
Canonical SPDI:: NC_000019.10:1490582:T:C
Gene:: PCSK4 (Varview), REEP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.1490583T>C, NC_000019.9:g.1490582T>C, NG_055254.1:g.4579T>C

Select item 14903147194.

rs1490314719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:1489124 (GRCh38)
19:1489123 (GRCh37)
Canonical SPDI:: NC_000019.10:1489123:C:G
Gene:: PCSK4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.1489124C>G, NC_000019.9:g.1489123C>G, NG_055254.1:g.3120C>G

Select item 14899685965.

rs1489968596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1495018 (GRCh38)
19:1495017 (GRCh37)
Canonical SPDI:: NC_000019.10:1495017:C:A
Gene:: REEP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.1495018C>A, NC_000019.9:g.1495017C>A, NG_055254.1:g.9014C>A

Select item 14897373676.

rs1489737367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1498388 (GRCh38)
19:1498387 (GRCh37)
Canonical SPDI:: NC_000019.10:1498387:G:A
Gene:: REEP6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1498388G>A, NC_000019.9:g.1498387G>A, NG_055254.1:g.12384G>A

Select item 14895365157.

rs1489536515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1495769 (GRCh38)
19:1495768 (GRCh37)
Canonical SPDI:: NC_000019.10:1495768:G:A
Gene:: REEP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.1495769G>A, NC_000019.9:g.1495768G>A, NG_055254.1:g.9765G>A

Select item 14893488088.

rs1489348808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1498200 (GRCh38)
19:1498199 (GRCh37)
Canonical SPDI:: NC_000019.10:1498199:C:T
Gene:: REEP6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.1498200C>T, NC_000019.9:g.1498199C>T, NG_055254.1:g.12196C>T

Select item 14890525119.

rs1489052511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:1492789 (GRCh38)
19:1492788 (GRCh37)
Canonical SPDI:: NC_000019.10:1492788:C:G
Gene:: PCSK4 (Varview), REEP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1492789C>G, NC_000019.9:g.1492788C>G, NG_055254.1:g.6785C>G

Select item 148823606610.

rs1488236066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:1495514 (GRCh38)
19:1495513 (GRCh37)
Canonical SPDI:: NC_000019.10:1495513:G:A,NC_000019.10:1495513:G:C,NC_000019.10:1495513:G:T
Gene:: REEP6 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1495514G>A, NC_000019.10:g.1495514G>C, NC_000019.10:g.1495514G>T, NC_000019.9:g.1495513G>A, NC_000019.9:g.1495513G>C, NC_000019.9:g.1495513G>T, NG_055254.1:g.9510G>A, NG_055254.1:g.9510G>C, NG_055254.1:g.9510G>T, NM_138393.4:c.255G>A, NM_138393.4:c.255G>C, NM_138393.4:c.255G>T, NM_138393.3:c.255G>A, NM_138393.3:c.255G>C, NM_138393.3:c.255G>T, NM_138393.2:c.255G>A, NM_138393.2:c.255G>C, NM_138393.2:c.255G>T, NM_138393.1:c.255G>A, NM_138393.1:c.255G>C, NM_138393.1:c.255G>T, NM_001329556.3:c.255G>A, NM_001329556.3:c.255G>C, NM_001329556.3:c.255G>T, NM_001329556.2:c.255G>A, NM_001329556.2:c.255G>C, NM_001329556.2:c.255G>T, NM_001329556.1:c.255G>A, NM_001329556.1:c.255G>C, NM_001329556.1:c.255G>T, NP_612402.1:p.Trp85Ter, NP_612402.1:p.Trp85Cys, NP_612402.1:p.Trp85Cys, NP_001316485.1:p.Trp85Ter, NP_001316485.1:p.Trp85Cys, NP_001316485.1:p.Trp85Cys

Select item 148785954911.

rs1487859549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1493935 (GRCh38)
19:1493934 (GRCh37)
Canonical SPDI:: NC_000019.10:1493934:A:G
Gene:: REEP6 (Varview)
Functional Consequence:: intron_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_000019.10:g.1493935A>G, NC_000019.9:g.1493934A>G, NG_055254.1:g.7931A>G

Select item 148704895812.

rs1487048958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:1496623 (GRCh38)
19:1496622 (GRCh37)
Canonical SPDI:: NC_000019.10:1496622:A:T
Gene:: REEP6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.1496623A>T, NC_000019.9:g.1496622A>T, NG_055254.1:g.10619A>T, NM_001329556.3:c.550A>T, NM_001329556.2:c.550A>T, NM_001329556.1:c.550A>T, NP_001316485.1:p.Ile184Phe

Select item 148689900613.

rs1486899006 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C
Chromosome:: no mapping
Canonical SPDI:

Select item 148679369114.

rs1486793691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1497488 (GRCh38)
19:1497487 (GRCh37)
Canonical SPDI:: NC_000019.10:1497487:C:T
Gene:: REEP6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1497488C>T, NC_000019.9:g.1497487C>T, NG_055254.1:g.11484C>T, NM_138393.4:c.*277C>T, NM_138393.3:c.*277C>T, NM_138393.2:c.*277C>T, NM_138393.1:c.*277C>T, NM_001329556.3:c.*277C>T, NM_001329556.2:c.*277C>T, NM_001329556.1:c.*277C>T

Select item 148675060515.

rs1486750605 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCCCTCTCTAGCTTCCGCCCCTGGCC>- [Show Flanks]
Chromosome:: 19:1491573 (GRCh38)
19:1491572 (GRCh37)
Canonical SPDI:: NC_000019.10:1491568:GGCCACCCCTCTCTAGCTTCCGCCCCTGGCC:GGCC
Gene:: PCSK4 (Varview), REEP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1491573_1491599del, NC_000019.9:g.1491572_1491598del, NG_055254.1:g.5569_5595del

Select item 148643556816.

rs1486435568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:1496506 (GRCh38)
19:1496505 (GRCh37)
Canonical SPDI:: NC_000019.10:1496505:T:A,NC_000019.10:1496505:T:C
Gene:: REEP6 (Varview)
Functional Consequence:: intron_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_000019.10:g.1496506T>A, NC_000019.10:g.1496506T>C, NC_000019.9:g.1496505T>A, NC_000019.9:g.1496505T>C, NG_055254.1:g.10502T>A, NG_055254.1:g.10502T>C

Select item 148613403117.

rs1486134031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1498203 (GRCh38)
19:1498202 (GRCh37)
Canonical SPDI:: NC_000019.10:1498202:A:G
Gene:: REEP6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000019.10:g.1498203A>G, NC_000019.9:g.1498202A>G, NG_055254.1:g.12199A>G

Select item 148605591518.

rs1486055915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1497010 (GRCh38)
19:1497009 (GRCh37)
Canonical SPDI:: NC_000019.10:1497009:A:G
Gene:: REEP6 (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.1497010A>G, NC_000019.9:g.1497009A>G, NG_055254.1:g.11006A>G

Select item 148599597619.

rs1485995976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:1489528 (GRCh38)
19:1489527 (GRCh37)
Canonical SPDI:: NC_000019.10:1489527:C:G
Gene:: PCSK4 (Varview), REEP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1489528C>G, NC_000019.9:g.1489527C>G, NG_055254.1:g.3524C>G

Select item 148584768920.

rs1485847689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1496004 (GRCh38)
19:1496003 (GRCh37)
Canonical SPDI:: NC_000019.10:1496003:C:T
Gene:: REEP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1496004C>T, NC_000019.9:g.1496003C>T, NG_055254.1:g.10000C>T

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