SNP Links for Gene (Select 440561) - SNP

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Items: 1 to 20 of 2834

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Select item 14907856781.

rs1490785678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:12949114 (GRCh38)
1:13008940 (GRCh37)
Canonical SPDI:: NC_000001.11:12949113:C:G
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.12949114C>G, NC_000001.10:g.13008940C>G, NW_012132914.1:g.130627C>G

Select item 14903550172.

rs1490355017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:12947726 (GRCh38)
1:13007552 (GRCh37)
Canonical SPDI:: NC_000001.11:12947725:T:G
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00098/16 (ALFA)
G=0.00398/65 (TOMMO)
HGVS:: NC_000001.11:g.12947726T>G, NC_000001.10:g.13007552T>G, NW_012132914.1:g.129239T>G

Select item 14901897873.

rs1490189787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:12947387 (GRCh38)
1:13007213 (GRCh37)
Canonical SPDI:: NC_000001.11:12947386:T:C
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000138/17 (GnomAD)
C=0.001645/3 (Korea1K)
C=0.00541/89 (TOMMO)
HGVS:: NC_000001.11:g.12947387T>C, NC_000001.10:g.13007213T>C, NW_012132914.1:g.128900T>C

Select item 14898907144.

rs1489890714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:12942797 (GRCh38)
1:13002627 (GRCh37)
Canonical SPDI:: NC_000001.11:12942796:T:A
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.12942797T>A, NC_000001.10:g.13002627T>A, NW_012132914.1:g.124310T>A

Select item 14893869095.

rs1489386909 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAATTAGCTGGGCA>- [Show Flanks]
Chromosome:: 1:12948006 (GRCh38)
1:13007832 (GRCh37)
Canonical SPDI:: NC_000001.11:12948003:CAAAAATTAGCTGGGCA:CA
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.00141/23 (ALFA)
HGVS:: NC_000001.11:g.12948006_12948020del, NC_000001.10:g.13007832_13007846del, NW_012132914.1:g.129519_129533del

Select item 14892802616.

rs1489280261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:12948310 (GRCh38)
1:13008136 (GRCh37)
Canonical SPDI:: NC_000001.11:12948309:G:C
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.12948310G>C, NC_000001.10:g.13008136G>C, NW_012132914.1:g.129823G>C

Select item 14890598007.

rs1489059800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:12945271 (GRCh38)
1:13005101 (GRCh37)
Canonical SPDI:: NC_000001.11:12945270:C:A
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.12945271C>A, NC_000001.10:g.13005101C>A, NW_012132914.1:g.126784C>A

Select item 14890077118.

rs1489007711 has merged into rs1263267762 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 1:12943013 (GRCh38)
1:13002843 (GRCh37)
Canonical SPDI:: NC_000001.11:12943007:TCTCTCTCT:TCTCT,NC_000001.11:12943007:TCTCTCTCT:TCTCTCT
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCT=0./0 (ALFA)
-=0.00098/27 (TOMMO)
-=0.0011/2 (Korea1K)
-=0.00125/8 (1000Genomes)
HGVS:: NC_000001.11:g.12943009CT[2], NC_000001.11:g.12943009CT[3], NC_000001.10:g.13002839CT[2], NC_000001.10:g.13002839CT[3], NW_012132914.1:g.124522CT[2], NW_012132914.1:g.124522CT[3]

Select item 14889940919.

rs1488994091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:12939102 (GRCh38)
1:12998932 (GRCh37)
Canonical SPDI:: NC_000001.11:12939101:T:A,NC_000001.11:12939101:T:C
Gene:: PRAMEF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.12939102T>A, NC_000001.11:g.12939102T>C, NC_000001.10:g.12998932T>A, NC_000001.10:g.12998932T>C, NW_012132914.1:g.120615T>A, NW_012132914.1:g.120615T>C, NM_001010889.2:c.1004A>T, NM_001010889.2:c.1004A>G, NP_001010889.1:p.Asn335Ile, NP_001010889.1:p.Asn335Ser

Select item 148869217610.

rs1488692176 has merged into rs369648638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:12942132 (GRCh38)
1:13001962 (GRCh37)
Canonical SPDI:: NC_000001.11:12942131:C:G
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01214/144 (ALFA)
G=0.00404/3 (Korea1K)
G=0.00422/40 (TOMMO)
G=0.00649/10 (GnomAD)
G=0.01202/77 (1000Genomes)
C=0.04545/1 (SGDP_PRJ)
G=0.09835/226 (KOREAN)
HGVS:: NC_000001.11:g.12942132C>G, NC_000001.10:g.13001962C>G, NW_012132914.1:g.123645C>G

Select item 148868254011.

rs1488682540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:12944337 (GRCh38)
1:13004167 (GRCh37)
Canonical SPDI:: NC_000001.11:12944336:G:C
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.12944337G>C, NC_000001.10:g.13004167G>C, NW_012132914.1:g.125850G>C

Select item 148864626912.

rs1488646269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:12945353 (GRCh38)
1:13005183 (GRCh37)
Canonical SPDI:: NC_000001.11:12945352:C:G
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.12945353C>G, NC_000001.10:g.13005183C>G, NW_012132914.1:g.126866C>G

Select item 148864303013.

rs1488643030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12948717 (GRCh38)
1:13008543 (GRCh37)
Canonical SPDI:: NC_000001.11:12948716:C:T
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.00007/6 (GnomAD)
HGVS:: NC_000001.11:g.12948717C>T, NC_000001.10:g.13008543C>T, NW_012132914.1:g.130230C>T

Select item 148840432414.

rs1488404324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:12948388 (GRCh38)
1:13008214 (GRCh37)
Canonical SPDI:: NC_000001.11:12948387:G:A,NC_000001.11:12948387:G:C,NC_000001.11:12948387:G:T
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD)
A=0.03409/93 (KOREAN)
HGVS:: NC_000001.11:g.12948388G>A, NC_000001.11:g.12948388G>C, NC_000001.11:g.12948388G>T, NC_000001.10:g.13008214G>A, NC_000001.10:g.13008214G>C, NC_000001.10:g.13008214G>T, NW_012132914.1:g.129901G>A, NW_012132914.1:g.129901G>C, NW_012132914.1:g.129901G>T

Select item 148808192115.

rs1488081921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:12945751 (GRCh38)
1:13361658 (GRCh37)
Canonical SPDI:: NC_000001.11:12945750:G:A
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.12945751G>A, NW_012132914.1:g.127264G>A, NC_000001.10:g.13361658C>T

Select item 148736234816.

rs1487362348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:12947295 (GRCh38)
1:13007121 (GRCh37)
Canonical SPDI:: NC_000001.11:12947294:T:C
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.12947295T>C, NC_000001.10:g.13007121T>C, NW_012132914.1:g.128808T>C

Select item 148734003617.

rs1487340036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:12948988 (GRCh38)
1:13008814 (GRCh37)
Canonical SPDI:: NC_000001.11:12948987:C:A
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.12948988C>A, NC_000001.10:g.13008814C>A, NW_012132914.1:g.130501C>A

Select item 148730865118.

rs1487308651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:12948076 (GRCh38)
1:13007902 (GRCh37)
Canonical SPDI:: NC_000001.11:12948075:T:G
Gene:: PRAMEF6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.0007/3 (ALFA)
HGVS:: NC_000001.11:g.12948076T>G, NC_000001.10:g.13007902T>G, NW_012132914.1:g.129589T>G

Select item 148716100719.

rs1487161007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:12947158 (GRCh38)
1:13006984 (GRCh37)
Canonical SPDI:: NC_000001.11:12947157:C:A
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.12947158C>A, NC_000001.10:g.13006984C>A, NW_012132914.1:g.128671C>A

Select item 148705191020.

rs1487051910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12944974 (GRCh38)
1:13004804 (GRCh37)
Canonical SPDI:: NC_000001.11:12944973:C:T
Gene:: PRAMEF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.12944974C>T, NC_000001.10:g.13004804C>T, NW_012132914.1:g.126487C>T

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