SNP Links for Gene (Select 339145) - SNP

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Select item 14915628551.

rs1491562855 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:85099797 (GRCh38)
16:85133403 (GRCh37)
Canonical SPDI:: NC_000016.10:85099796:CT:
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000016.10:g.85099797_85099798del, NC_000016.9:g.85133403_85133404del

Select item 14912320562.

rs1491232056 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 16:85099796 (GRCh38)
16:85133403 (GRCh37)
Canonical SPDI:: NC_000016.10:85099796:CT:CTCT
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.00049/8 (ALFA)
CT=0.00018/11 (GnomAD)
CT=0.00018/3 (TOMMO)
CT=0.01007/6 (NorthernSweden)
HGVS:: NC_000016.10:g.85099797_85099798dup, NC_000016.9:g.85133403_85133404dup

Select item 14912208663.

rs1491220866 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 16:85099796 (GRCh38)
16:85133402 (GRCh37)
Canonical SPDI:: NC_000016.10:85099795:GC:
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.85099796_85099797del, NC_000016.9:g.85133402_85133403del

Select item 14911646104.

rs1491164610 has merged into rs71386075 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:85099807 (GRCh38)
16:85133413 (GRCh37)
Canonical SPDI:: NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.85099807_85099821del, NC_000016.10:g.85099810_85099821del, NC_000016.10:g.85099811_85099821del, NC_000016.10:g.85099812_85099821del, NC_000016.10:g.85099813_85099821del, NC_000016.10:g.85099814_85099821del, NC_000016.10:g.85099815_85099821del, NC_000016.10:g.85099816_85099821del, NC_000016.10:g.85099817_85099821del, NC_000016.10:g.85099818_85099821del, NC_000016.10:g.85099819_85099821del, NC_000016.10:g.85099820_85099821del, NC_000016.10:g.85099821del, NC_000016.10:g.85099821dup, NC_000016.10:g.85099820_85099821dup, NC_000016.10:g.85099819_85099821dup, NC_000016.10:g.85099818_85099821dup, NC_000016.10:g.85099817_85099821dup, NC_000016.10:g.85099816_85099821dup, NC_000016.10:g.85099815_85099821dup, NC_000016.10:g.85099814_85099821dup, NC_000016.10:g.85099813_85099821dup, NC_000016.10:g.85099812_85099821dup, NC_000016.10:g.85099807_85099821dup, NC_000016.10:g.85099805_85099821dup, NC_000016.10:g.85099804_85099821dup, NC_000016.10:g.85099803_85099821dup, NC_000016.9:g.85133413_85133427del, NC_000016.9:g.85133416_85133427del, NC_000016.9:g.85133417_85133427del, NC_000016.9:g.85133418_85133427del, NC_000016.9:g.85133419_85133427del, NC_000016.9:g.85133420_85133427del, NC_000016.9:g.85133421_85133427del, NC_000016.9:g.85133422_85133427del, NC_000016.9:g.85133423_85133427del, NC_000016.9:g.85133424_85133427del, NC_000016.9:g.85133425_85133427del, NC_000016.9:g.85133426_85133427del, NC_000016.9:g.85133427del, NC_000016.9:g.85133427dup, NC_000016.9:g.85133426_85133427dup, NC_000016.9:g.85133425_85133427dup, NC_000016.9:g.85133424_85133427dup, NC_000016.9:g.85133423_85133427dup, NC_000016.9:g.85133422_85133427dup, NC_000016.9:g.85133421_85133427dup, NC_000016.9:g.85133420_85133427dup, NC_000016.9:g.85133419_85133427dup, NC_000016.9:g.85133418_85133427dup, NC_000016.9:g.85133413_85133427dup, NC_000016.9:g.85133411_85133427dup, NC_000016.9:g.85133410_85133427dup, NC_000016.9:g.85133409_85133427dup

Select item 14911539085.

rs1491153908 has merged into rs71386075 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:85099807 (GRCh38)
16:85133413 (GRCh37)
Canonical SPDI:: NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85099797:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.85099807_85099821del, NC_000016.10:g.85099810_85099821del, NC_000016.10:g.85099811_85099821del, NC_000016.10:g.85099812_85099821del, NC_000016.10:g.85099813_85099821del, NC_000016.10:g.85099814_85099821del, NC_000016.10:g.85099815_85099821del, NC_000016.10:g.85099816_85099821del, NC_000016.10:g.85099817_85099821del, NC_000016.10:g.85099818_85099821del, NC_000016.10:g.85099819_85099821del, NC_000016.10:g.85099820_85099821del, NC_000016.10:g.85099821del, NC_000016.10:g.85099821dup, NC_000016.10:g.85099820_85099821dup, NC_000016.10:g.85099819_85099821dup, NC_000016.10:g.85099818_85099821dup, NC_000016.10:g.85099817_85099821dup, NC_000016.10:g.85099816_85099821dup, NC_000016.10:g.85099815_85099821dup, NC_000016.10:g.85099814_85099821dup, NC_000016.10:g.85099813_85099821dup, NC_000016.10:g.85099812_85099821dup, NC_000016.10:g.85099807_85099821dup, NC_000016.10:g.85099805_85099821dup, NC_000016.10:g.85099804_85099821dup, NC_000016.10:g.85099803_85099821dup, NC_000016.9:g.85133413_85133427del, NC_000016.9:g.85133416_85133427del, NC_000016.9:g.85133417_85133427del, NC_000016.9:g.85133418_85133427del, NC_000016.9:g.85133419_85133427del, NC_000016.9:g.85133420_85133427del, NC_000016.9:g.85133421_85133427del, NC_000016.9:g.85133422_85133427del, NC_000016.9:g.85133423_85133427del, NC_000016.9:g.85133424_85133427del, NC_000016.9:g.85133425_85133427del, NC_000016.9:g.85133426_85133427del, NC_000016.9:g.85133427del, NC_000016.9:g.85133427dup, NC_000016.9:g.85133426_85133427dup, NC_000016.9:g.85133425_85133427dup, NC_000016.9:g.85133424_85133427dup, NC_000016.9:g.85133423_85133427dup, NC_000016.9:g.85133422_85133427dup, NC_000016.9:g.85133421_85133427dup, NC_000016.9:g.85133420_85133427dup, NC_000016.9:g.85133419_85133427dup, NC_000016.9:g.85133418_85133427dup, NC_000016.9:g.85133413_85133427dup, NC_000016.9:g.85133411_85133427dup, NC_000016.9:g.85133410_85133427dup, NC_000016.9:g.85133409_85133427dup

Select item 14909974406.

rs1490997440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:85107053 (GRCh38)
16:85140659 (GRCh37)
Canonical SPDI:: NC_000016.10:85107052:G:T
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.85107053G>T, NC_000016.9:g.85140659G>T

Select item 14901682997.

rs1490168299 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:85107157 (GRCh38)
16:85140764 (GRCh37)
Canonical SPDI:: NC_000016.10:85107157::T
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.85107157_85107158insT, NC_000016.9:g.85140763_85140764insT

Select item 14901649318.

rs1490164931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:85106418 (GRCh38)
16:85140024 (GRCh37)
Canonical SPDI:: NC_000016.10:85106417:G:T
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000566/9 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.85106418G>T, NC_000016.9:g.85140024G>T

Select item 14900025979.

rs1490002597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:85105559 (GRCh38)
16:85139165 (GRCh37)
Canonical SPDI:: NC_000016.10:85105558:T:A
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.85105559T>A, NC_000016.9:g.85139165T>A

Select item 148978880110.

rs1489788801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85101096 (GRCh38)
16:85134702 (GRCh37)
Canonical SPDI:: NC_000016.10:85101095:G:C
Gene:: CIBAR2 (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_000016.10:g.85101096G>C, NC_000016.9:g.85134702G>C

Select item 148977105611.

rs1489771056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85114026 (GRCh38)
16:85147632 (GRCh37)
Canonical SPDI:: NC_000016.10:85114025:C:T
Gene:: CIBAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85114026C>T, NC_000016.9:g.85147632C>T

Select item 148971257812.

rs1489712578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85112041 (GRCh38)
16:85145647 (GRCh37)
Canonical SPDI:: NC_000016.10:85112040:G:C
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85112041G>C, NC_000016.9:g.85145647G>C

Select item 148951179613.

rs1489511796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85109892 (GRCh38)
16:85143498 (GRCh37)
Canonical SPDI:: NC_000016.10:85109891:C:T
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.85109892C>T, NC_000016.9:g.85143498C>T

Select item 148919706314.

rs1489197063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:85105329 (GRCh38)
16:85138935 (GRCh37)
Canonical SPDI:: NC_000016.10:85105328:G:T
Gene:: CIBAR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.85105329G>T, NC_000016.9:g.85138935G>T, NM_198491.3:c.535C>A, NM_198491.2:c.535C>A, NM_198491.1:c.535C>A, XM_011523063.2:c.535C>A, XM_011523063.1:c.535C>A, XM_017023198.2:c.535C>A, XM_017023198.1:c.535C>A, NM_001366920.1:c.535C>A, NP_940893.1:p.Gln179Lys, XP_011521365.1:p.Gln179Lys, XP_016878687.1:p.Gln179Lys, NP_001353849.1:p.Gln179Lys

Select item 148880784815.

rs1488807848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85100867 (GRCh38)
16:85134473 (GRCh37)
Canonical SPDI:: NC_000016.10:85100866:G:A
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_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_000016.10:g.85100867G>A, NC_000016.9:g.85134473G>A

Select item 148856763316.

rs1488567633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85104691 (GRCh38)
16:85138297 (GRCh37)
Canonical SPDI:: NC_000016.10:85104690:G:C
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.85104691G>C, NC_000016.9:g.85138297G>C

Select item 148855412217.

rs1488554122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85106819 (GRCh38)
16:85140425 (GRCh37)
Canonical SPDI:: NC_000016.10:85106818:G:A
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.85106819G>A, NC_000016.9:g.85140425G>A

Select item 148796178518.

rs1487961785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:85099803 (GRCh38)
16:85133409 (GRCh37)
Canonical SPDI:: NC_000016.10:85099802:T:C
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.85099803T>C, NC_000016.9:g.85133409T>C

Select item 148782917719.

rs1487829177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:85100569 (GRCh38)
16:85134175 (GRCh37)
Canonical SPDI:: NC_000016.10:85100568:C:A,NC_000016.10:85100568:C:T
Gene:: CIBAR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.85100569C>A, NC_000016.10:g.85100569C>T, NC_000016.9:g.85134175C>A, NC_000016.9:g.85134175C>T

Select item 148780589720.

rs1487805897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85113409 (GRCh38)
16:85147015 (GRCh37)
Canonical SPDI:: NC_000016.10:85113408:G:A
Gene:: CIBAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85113409G>A, NC_000016.9:g.85147015G>A

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