SNP Links for Gene (Select 135398) - SNP

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Select item 14913912561.

rs1491391256 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:49553783 (GRCh38)
6:49521496 (GRCh37)
Canonical SPDI:: NC_000006.12:49553782:GT:
Gene:: C6orf141 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.49553783_49553784del, NC_000006.11:g.49521496_49521497del, XM_047418229.1:c.*1850_*1851del, XM_047418226.1:c.*1645_*1646del

Select item 14912815642.

rs1491281564 has merged into rs58250338 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 6:49553793 (GRCh38)
6:49521506 (GRCh37)
Canonical SPDI:: NC_000006.12:49553783:TTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:49553783:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:49553783:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:49553783:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.025/1 (GENOME_DK)
TT=0.0483/29 (NorthernSweden)
TT=0.0705/353 (1000Genomes)
HGVS:: NC_000006.12:g.49553793_49553795del, NC_000006.12:g.49553794_49553795del, NC_000006.12:g.49553795del, NC_000006.12:g.49553795dup, NC_000006.11:g.49521506_49521508del, NC_000006.11:g.49521507_49521508del, NC_000006.11:g.49521508del, NC_000006.11:g.49521508dup, XM_047418229.1:c.*1860_*1862del, XM_047418229.1:c.*1861_*1862del, XM_047418229.1:c.*1862del, XM_047418229.1:c.*1862dup, XM_047418226.1:c.*1655_*1657del, XM_047418226.1:c.*1656_*1657del, XM_047418226.1:c.*1657del, XM_047418226.1:c.*1657dup

Select item 14911313953.

rs1491131395 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:49561026 (GRCh38)
6:49528739 (GRCh37)
Canonical SPDI:: NC_000006.12:49561025:GT:
Gene:: C6orf141 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.49561026_49561027del, NC_000006.11:g.49528739_49528740del

Select item 14911188654.

rs1491118865 has merged into rs36182126 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 6:49561044 (GRCh38)
6:49528757 (GRCh37)
Canonical SPDI:: NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:49561026:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.4718/2363 (1000Genomes)
HGVS:: NC_000006.12:g.49561028CT[8], NC_000006.12:g.49561028CT[9], NC_000006.12:g.49561028CT[10], NC_000006.12:g.49561028CT[11], NC_000006.12:g.49561028CT[12], NC_000006.12:g.49561028CT[14], NC_000006.12:g.49561028CT[15], NC_000006.12:g.49561028CT[16], NC_000006.12:g.49561028CT[17], NC_000006.12:g.49561028CT[18], NC_000006.12:g.49561028CT[19], NC_000006.11:g.49528741CT[8], NC_000006.11:g.49528741CT[9], NC_000006.11:g.49528741CT[10], NC_000006.11:g.49528741CT[11], NC_000006.11:g.49528741CT[12], NC_000006.11:g.49528741CT[14], NC_000006.11:g.49528741CT[15], NC_000006.11:g.49528741CT[16], NC_000006.11:g.49528741CT[17], NC_000006.11:g.49528741CT[18], NC_000006.11:g.49528741CT[19]

Select item 14907449725.

rs1490744972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:49550509 (GRCh38)
6:49518222 (GRCh37)
Canonical SPDI:: NC_000006.12:49550508:G:A,NC_000006.12:49550508:G:T
Gene:: C6orf141 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.49550509G>A, NC_000006.12:g.49550509G>T, NC_000006.11:g.49518222G>A, NC_000006.11:g.49518222G>T, NR_146861.1:n.110G>A, NR_146861.1:n.110G>T, NR_146857.1:n.110G>A, NR_146857.1:n.110G>T, NR_146863.1:n.110G>A, NR_146863.1:n.110G>T, NR_146854.1:n.110G>A, NR_146854.1:n.110G>T, NR_146860.1:n.110G>A, NR_146860.1:n.110G>T, NR_146853.1:n.110G>A, NR_146853.1:n.110G>T, NR_146862.1:n.110G>A, NR_146862.1:n.110G>T, NR_146856.1:n.110G>A, NR_146856.1:n.110G>T, NR_146855.1:n.110G>A, NR_146855.1:n.110G>T, NR_146859.1:n.110G>A, NR_146859.1:n.110G>T, NR_146858.1:n.110G>A, NR_146858.1:n.110G>T, NR_146864.1:n.110G>A, NR_146864.1:n.110G>T, NM_001145652.1:c.-284G>A, NM_001145652.1:c.-284G>T

Select item 14904991156.

rs1490499115 has merged into rs71002664 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:49558069 (GRCh38)
6:49525782 (GRCh37)
Canonical SPDI:: NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49558059:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.49558069_49558083del, NC_000006.12:g.49558073_49558083del, NC_000006.12:g.49558074_49558083del, NC_000006.12:g.49558076_49558083del, NC_000006.12:g.49558077_49558083del, NC_000006.12:g.49558078_49558083del, NC_000006.12:g.49558079_49558083del, NC_000006.12:g.49558080_49558083del, NC_000006.12:g.49558081_49558083del, NC_000006.12:g.49558082_49558083del, NC_000006.12:g.49558083del, NC_000006.12:g.49558083dup, NC_000006.12:g.49558082_49558083dup, NC_000006.12:g.49558081_49558083dup, NC_000006.12:g.49558080_49558083dup, NC_000006.12:g.49558079_49558083dup, NC_000006.12:g.49558078_49558083dup, NC_000006.12:g.49558077_49558083dup, NC_000006.12:g.49558076_49558083dup, NC_000006.12:g.49558075_49558083dup, NC_000006.12:g.49558074_49558083dup, NC_000006.12:g.49558073_49558083dup, NC_000006.12:g.49558072_49558083dup, NC_000006.12:g.49558071_49558083dup, NC_000006.12:g.49558069_49558083dup, NC_000006.12:g.49558068_49558083dup, NC_000006.12:g.49558062_49558083dup, NC_000006.12:g.49558083_49558084insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.49558083_49558084insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.49525782_49525796del, NC_000006.11:g.49525786_49525796del, NC_000006.11:g.49525787_49525796del, NC_000006.11:g.49525789_49525796del, NC_000006.11:g.49525790_49525796del, NC_000006.11:g.49525791_49525796del, NC_000006.11:g.49525792_49525796del, NC_000006.11:g.49525793_49525796del, NC_000006.11:g.49525794_49525796del, NC_000006.11:g.49525795_49525796del, NC_000006.11:g.49525796del, NC_000006.11:g.49525796dup, NC_000006.11:g.49525795_49525796dup, NC_000006.11:g.49525794_49525796dup, NC_000006.11:g.49525793_49525796dup, NC_000006.11:g.49525792_49525796dup, NC_000006.11:g.49525791_49525796dup, NC_000006.11:g.49525790_49525796dup, NC_000006.11:g.49525789_49525796dup, NC_000006.11:g.49525788_49525796dup, NC_000006.11:g.49525787_49525796dup, NC_000006.11:g.49525786_49525796dup, NC_000006.11:g.49525785_49525796dup, NC_000006.11:g.49525784_49525796dup, NC_000006.11:g.49525782_49525796dup, NC_000006.11:g.49525781_49525796dup, NC_000006.11:g.49525775_49525796dup, NC_000006.11:g.49525796_49525797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.49525796_49525797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14902666267.

rs1490266626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49560301 (GRCh38)
6:49528014 (GRCh37)
Canonical SPDI:: NC_000006.12:49560300:T:C
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.49560301T>C, NC_000006.11:g.49528014T>C

Select item 14902419698.

rs1490241969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:49559307 (GRCh38)
6:49527020 (GRCh37)
Canonical SPDI:: NC_000006.12:49559306:G:C
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49559307G>C, NC_000006.11:g.49527020G>C

Select item 14897092159.

rs1489709215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49555529 (GRCh38)
6:49523242 (GRCh37)
Canonical SPDI:: NC_000006.12:49555528:G:T
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00185/50 (TOMMO)
HGVS:: NC_000006.12:g.49555529G>T, NC_000006.11:g.49523242G>T, XM_005248850.4:c.*1696G>T, XM_005248850.3:c.*1696G>T, XM_006714997.3:c.*1491G>T, XM_005248853.3:c.*801G>T, XM_047418225.1:c.*1927G>T, XM_047418231.1:c.*1622G>T, XM_047418227.1:c.*1596G>T, XM_047418228.1:c.*1138G>T

Select item 148953733610.

rs1489537336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49556579 (GRCh38)
6:49524292 (GRCh37)
Canonical SPDI:: NC_000006.12:49556578:G:A
Gene:: C6orf141 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.49556579G>A, NC_000006.11:g.49524292G>A

Select item 148948614011.

rs1489486140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49559293 (GRCh38)
6:49527006 (GRCh37)
Canonical SPDI:: NC_000006.12:49559292:G:T
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49559293G>T, NC_000006.11:g.49527006G>T

Select item 148943517712.

rs1489435177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 6:49557254 (GRCh38)
6:49524968 (GRCh37)
Canonical SPDI:: NC_000006.12:49557254:AATAATAATAATAAT:AATAATAATAATAATAAT
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAATAATAATAAT=0.000169/2 (ALFA)
AAT=0.000035/1 (TOMMO)
AAT=0.000057/8 (GnomAD)
AAT=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.49557255AAT[6], NC_000006.11:g.49524968AAT[6]

Select item 148928204413.

rs1489282044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49549502 (GRCh38)
6:49517215 (GRCh37)
Canonical SPDI:: NC_000006.12:49549501:T:A
Gene:: C6orf141 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.49549502T>A, NC_000006.11:g.49517215T>A

Select item 148922970714.

rs1489229707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49549986 (GRCh38)
6:49517699 (GRCh37)
Canonical SPDI:: NC_000006.12:49549985:G:A
Gene:: C6orf141 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.49549986G>A, NC_000006.11:g.49517699G>A

Select item 148920331715.

rs1489203317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49551589 (GRCh38)
6:49519302 (GRCh37)
Canonical SPDI:: NC_000006.12:49551588:A:G
Gene:: C6orf141 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.49551589A>G, NC_000006.11:g.49519302A>G, XM_005248850.4:c.*62A>G, XM_005248850.3:c.*62A>G, XM_005248850.2:c.*62A>G, XM_005248850.1:c.*62A>G, XM_006714997.3:c.*62A>G, XM_006714997.2:c.*62A>G, XM_006714997.1:c.*62A>G, NR_146857.3:n.922A>G, NR_146857.2:n.922A>G, NR_146857.1:n.1190A>G, NR_146854.3:n.922A>G, NR_146854.2:n.922A>G, NR_146854.1:n.1190A>G, NR_146860.3:n.922A>G, NR_146860.2:n.922A>G, NR_146860.1:n.1190A>G, XM_005248853.3:c.*62A>G, XM_005248853.2:c.*62A>G, XM_005248853.1:c.*62A>G, NR_146862.3:n.922A>G, NR_146862.2:n.922A>G, NR_146862.1:n.1190A>G, NR_146864.3:n.922A>G, NR_146864.2:n.922A>G, NR_146864.1:n.1190A>G, NR_146856.3:n.922A>G, NR_146856.2:n.922A>G, NR_146856.1:n.1190A>G, NR_146859.3:n.922A>G, NR_146859.2:n.922A>G, NR_146859.1:n.1190A>G, NR_146861.2:n.922A>G, NR_146861.1:n.1190A>G, NR_146863.2:n.922A>G, NR_146863.1:n.1190A>G, NR_146853.2:n.922A>G, NR_146853.1:n.1190A>G, NR_146858.2:n.922A>G, NR_146858.1:n.1190A>G, NR_146855.2:n.922A>G, NR_146855.1:n.1190A>G, NM_001145652.2:c.*62A>G, NM_001145652.1:c.*62A>G, XM_047418229.1:c.*62A>G, XM_047418226.1:c.*62A>G, XM_047418225.1:c.*62A>G, XM_047418231.1:c.*62A>G, XM_047418227.1:c.*62A>G, NR_170591.1:n.922A>G, NR_170573.1:n.922A>G, NR_170575.1:n.922A>G, XM_047418228.1:c.*62A>G, NR_170564.1:n.922A>G, NR_170587.1:n.922A>G, NR_170576.1:n.922A>G, NR_170579.1:n.922A>G, NR_170569.1:n.922A>G, NR_170566.1:n.922A>G, NR_170581.1:n.922A>G, NR_170592.1:n.922A>G, NR_170577.1:n.922A>G, NR_170588.1:n.922A>G, NR_170590.1:n.922A>G, NR_170589.1:n.922A>G, NR_170563.1:n.922A>G, XM_047418230.1:c.*62A>G, NR_170570.1:n.922A>G, NR_170580.1:n.922A>G, NR_170567.1:n.922A>G, NR_170572.1:n.922A>G, NR_170585.1:n.922A>G, NR_170574.1:n.922A>G, NR_170586.1:n.922A>G, NR_170582.1:n.922A>G, NM_153344.1:c.*62A>G

Select item 148851425516.

rs1488514255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49550775 (GRCh38)
6:49518488 (GRCh37)
Canonical SPDI:: NC_000006.12:49550774:C:T
Gene:: C6orf141 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.00005/4 (GnomAD_exomes)
T=0.00014/2 (TOMMO)
T=0.00034/1 (KOREAN)
T=0.00055/1 (Korea1K)
HGVS:: NC_000006.12:g.49550775C>T, NC_000006.11:g.49518488C>T, XM_005248850.4:c.-18C>T, XM_005248850.3:c.-18C>T, XM_005248850.2:c.-18C>T, XM_005248850.1:c.-18C>T, XM_006714997.3:c.-18C>T, XM_006714997.2:c.-18C>T, XM_006714997.1:c.-18C>T, NR_146857.3:n.108C>T, NR_146857.2:n.108C>T, NR_146857.1:n.376C>T, NR_146854.3:n.108C>T, NR_146854.2:n.108C>T, NR_146854.1:n.376C>T, NR_146860.3:n.108C>T, NR_146860.2:n.108C>T, NR_146860.1:n.376C>T, XM_005248853.3:c.-18C>T, XM_005248853.2:c.-18C>T, XM_005248853.1:c.-18C>T, NR_146862.3:n.108C>T, NR_146862.2:n.108C>T, NR_146862.1:n.376C>T, NR_146864.3:n.108C>T, NR_146864.2:n.108C>T, NR_146864.1:n.376C>T, NR_146856.3:n.108C>T, NR_146856.2:n.108C>T, NR_146856.1:n.376C>T, NR_146859.3:n.108C>T, NR_146859.2:n.108C>T, NR_146859.1:n.376C>T, NR_146861.2:n.108C>T, NR_146861.1:n.376C>T, NR_146863.2:n.108C>T, NR_146863.1:n.376C>T, NR_146853.2:n.108C>T, NR_146853.1:n.376C>T, NR_146858.2:n.108C>T, NR_146858.1:n.376C>T, NR_146855.2:n.108C>T, NR_146855.1:n.376C>T, NM_001145652.2:c.-18C>T, NM_001145652.1:c.-18C>T, XM_047418229.1:c.-18C>T, XM_047418226.1:c.-18C>T, XM_047418225.1:c.-18C>T, XM_047418231.1:c.-18C>T, XM_047418227.1:c.-18C>T, NR_170591.1:n.108C>T, NR_170573.1:n.108C>T, NR_170575.1:n.108C>T, XM_047418228.1:c.-18C>T, NR_170564.1:n.108C>T, NR_170587.1:n.108C>T, NR_170576.1:n.108C>T, NR_170579.1:n.108C>T, NR_170569.1:n.108C>T, NR_170566.1:n.108C>T, NR_170581.1:n.108C>T, NR_170592.1:n.108C>T, NR_170577.1:n.108C>T, NR_170588.1:n.108C>T, NR_170590.1:n.108C>T, NR_170589.1:n.108C>T, NR_170563.1:n.108C>T, NR_170571.1:n.108C>T, NR_170578.1:n.108C>T, XM_047418230.1:c.-18C>T, NR_170565.1:n.108C>T, NR_170568.1:n.108C>T, NR_170570.1:n.108C>T, NR_170580.1:n.108C>T, NR_170583.1:n.108C>T, NR_170567.1:n.108C>T, NR_170572.1:n.108C>T, NR_170584.1:n.108C>T, NR_170585.1:n.108C>T, NR_170574.1:n.108C>T, NR_170586.1:n.108C>T, NR_170582.1:n.108C>T, NR_170593.1:n.108C>T, NM_153344.1:c.-18C>T

Select item 148809191817.

rs1488091918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:49550061 (GRCh38)
6:49517774 (GRCh37)
Canonical SPDI:: NC_000006.12:49550060:G:C
Gene:: C6orf141 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49550061G>C, NC_000006.11:g.49517774G>C

Select item 148775083918.

rs1487750839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49558396 (GRCh38)
6:49526109 (GRCh37)
Canonical SPDI:: NC_000006.12:49558395:C:T
Gene:: C6orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/3 (GnomAD)
HGVS:: NC_000006.12:g.49558396C>T, NC_000006.11:g.49526109C>T

Select item 148746605719.

rs1487466057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49549110 (GRCh38)
6:49516823 (GRCh37)
Canonical SPDI:: NC_000006.12:49549109:T:C
Gene:: C6orf141 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.49549110T>C, NC_000006.11:g.49516823T>C

Select item 148737509620.

rs1487375096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49550051 (GRCh38)
6:49517764 (GRCh37)
Canonical SPDI:: NC_000006.12:49550050:T:G
Gene:: C6orf141 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0008/1 (ALFA)
G=0.0321/92 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.49550051T>G, NC_000006.11:g.49517764T>G

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