SNP Links for Gene (Select 830) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915730761.

rs1491573076 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:116914470 (GRCh38)
7:116554524 (GRCh37)
Canonical SPDI:: NC_000007.14:116914469:CG:
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000044/6 (GnomAD)
HGVS:: NC_000007.14:g.116914470_116914471del, NC_000007.13:g.116554524_116554525del

Select item 14915012932.

rs1491501293 has merged into rs576504004 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:116890788 (GRCh38)
7:116530842 (GRCh37)
Canonical SPDI:: NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116890777:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.4573/2290 (1000Genomes)
HGVS:: NC_000007.14:g.116890788_116890799del, NC_000007.14:g.116890789_116890799del, NC_000007.14:g.116890790_116890799del, NC_000007.14:g.116890791_116890799del, NC_000007.14:g.116890792_116890799del, NC_000007.14:g.116890793_116890799del, NC_000007.14:g.116890794_116890799del, NC_000007.14:g.116890795_116890799del, NC_000007.14:g.116890797_116890799del, NC_000007.14:g.116890798_116890799del, NC_000007.14:g.116890799del, NC_000007.14:g.116890799dup, NC_000007.14:g.116890798_116890799dup, NC_000007.14:g.116890797_116890799dup, NC_000007.14:g.116890796_116890799dup, NC_000007.14:g.116890795_116890799dup, NC_000007.14:g.116890793_116890799dup, NC_000007.14:g.116890792_116890799dup, NC_000007.14:g.116890791_116890799dup, NC_000007.13:g.116530842_116530853del, NC_000007.13:g.116530843_116530853del, NC_000007.13:g.116530844_116530853del, NC_000007.13:g.116530845_116530853del, NC_000007.13:g.116530846_116530853del, NC_000007.13:g.116530847_116530853del, NC_000007.13:g.116530848_116530853del, NC_000007.13:g.116530849_116530853del, NC_000007.13:g.116530851_116530853del, NC_000007.13:g.116530852_116530853del, NC_000007.13:g.116530853del, NC_000007.13:g.116530853dup, NC_000007.13:g.116530852_116530853dup, NC_000007.13:g.116530851_116530853dup, NC_000007.13:g.116530850_116530853dup, NC_000007.13:g.116530849_116530853dup, NC_000007.13:g.116530847_116530853dup, NC_000007.13:g.116530846_116530853dup, NC_000007.13:g.116530845_116530853dup

Select item 14914160843.

rs1491416084 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:116879124 (GRCh38)
7:116519178 (GRCh37)
Canonical SPDI:: NC_000007.14:116879123:CA:
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00202/24 (ALFA)
HGVS:: NC_000007.14:g.116879124_116879125del, NC_000007.13:g.116519178_116519179del

Select item 14913859004.

rs1491385900 has merged into rs1011886318 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:116865190 (GRCh38)
7:116505244 (GRCh37)
Canonical SPDI:: NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116865177:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.116865190_116865203del, NC_000007.14:g.116865191_116865203del, NC_000007.14:g.116865192_116865203del, NC_000007.14:g.116865193_116865203del, NC_000007.14:g.116865194_116865203del, NC_000007.14:g.116865195_116865203del, NC_000007.14:g.116865196_116865203del, NC_000007.14:g.116865197_116865203del, NC_000007.14:g.116865198_116865203del, NC_000007.14:g.116865199_116865203del, NC_000007.14:g.116865200_116865203del, NC_000007.14:g.116865201_116865203del, NC_000007.14:g.116865202_116865203del, NC_000007.14:g.116865203del, NC_000007.14:g.116865203dup, NC_000007.14:g.116865202_116865203dup, NC_000007.14:g.116865201_116865203dup, NC_000007.14:g.116865200_116865203dup, NC_000007.14:g.116865199_116865203dup, NC_000007.14:g.116865198_116865203dup, NC_000007.14:g.116865197_116865203dup, NC_000007.14:g.116865196_116865203dup, NC_000007.14:g.116865195_116865203dup, NC_000007.14:g.116865194_116865203dup, NC_000007.14:g.116865193_116865203dup, NC_000007.14:g.116865192_116865203dup, NC_000007.13:g.116505244_116505257del, NC_000007.13:g.116505245_116505257del, NC_000007.13:g.116505246_116505257del, NC_000007.13:g.116505247_116505257del, NC_000007.13:g.116505248_116505257del, NC_000007.13:g.116505249_116505257del, NC_000007.13:g.116505250_116505257del, NC_000007.13:g.116505251_116505257del, NC_000007.13:g.116505252_116505257del, NC_000007.13:g.116505253_116505257del, NC_000007.13:g.116505254_116505257del, NC_000007.13:g.116505255_116505257del, NC_000007.13:g.116505256_116505257del, NC_000007.13:g.116505257del, NC_000007.13:g.116505257dup, NC_000007.13:g.116505256_116505257dup, NC_000007.13:g.116505255_116505257dup, NC_000007.13:g.116505254_116505257dup, NC_000007.13:g.116505253_116505257dup, NC_000007.13:g.116505252_116505257dup, NC_000007.13:g.116505251_116505257dup, NC_000007.13:g.116505250_116505257dup, NC_000007.13:g.116505249_116505257dup, NC_000007.13:g.116505248_116505257dup, NC_000007.13:g.116505247_116505257dup, NC_000007.13:g.116505246_116505257dup

Select item 14913770845.

rs1491377084 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:116901881 (GRCh38)
7:116541935 (GRCh37)
Canonical SPDI:: NC_000007.14:116901880:AT:
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00015/10 (GnomAD)
HGVS:: NC_000007.14:g.116901881_116901882del, NC_000007.13:g.116541935_116541936del

Select item 14913261726.

rs1491326172 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912831897.

rs1491283189 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:116892819 (GRCh38)
7:116532873 (GRCh37)
Canonical SPDI:: NC_000007.14:116892818:CT:
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.116892819_116892820del, NC_000007.13:g.116532873_116532874del

Select item 14912391358.

rs1491239135 has merged into rs10706961 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:116894375 (GRCh38)
7:116534429 (GRCh37)
Canonical SPDI:: NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116894360:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3546/1776 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000007.14:g.116894375_116894379del, NC_000007.14:g.116894376_116894379del, NC_000007.14:g.116894377_116894379del, NC_000007.14:g.116894378_116894379del, NC_000007.14:g.116894379del, NC_000007.14:g.116894379dup, NC_000007.14:g.116894378_116894379dup, NC_000007.14:g.116894372_116894379dup, NC_000007.13:g.116534429_116534433del, NC_000007.13:g.116534430_116534433del, NC_000007.13:g.116534431_116534433del, NC_000007.13:g.116534432_116534433del, NC_000007.13:g.116534433del, NC_000007.13:g.116534433dup, NC_000007.13:g.116534432_116534433dup, NC_000007.13:g.116534426_116534433dup

Select item 14912102059.

rs1491210205 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:116894360 (GRCh38)
7:116534414 (GRCh37)
Canonical SPDI:: NC_000007.14:116894359:CA:
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.116894360_116894361del, NC_000007.13:g.116534414_116534415del

Select item 149117789010.

rs1491177890 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCG [Show Flanks]
Chromosome:: 7:116917278 (GRCh38)
7:116557333 (GRCh37)
Canonical SPDI:: NC_000007.14:116917278:G:GGCG
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGCG=0./0 (ALFA)
GGC=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.116917279_116917280insGCG, NC_000007.13:g.116557333_116557334insGCG

Select item 149116923011.

rs1491169230 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:116917280 (GRCh38)
7:116557334 (GRCh37)
Canonical SPDI:: NC_000007.14:116917277:AGAG:AG
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.116917278AG[1], NC_000007.13:g.116557332AG[1]

Select item 149116418912.

rs1491164189 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:116865178 (GRCh38)
7:116505233 (GRCh37)
Canonical SPDI:: NC_000007.14:116865178::G
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.116865178_116865179insG, NC_000007.13:g.116505232_116505233insG

Select item 149106106113.

rs1491061061 has merged into rs371485695 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:116904975 (GRCh38)
7:116545029 (GRCh37)
Canonical SPDI:: NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:116904969:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.116904975_116904989del, NC_000007.14:g.116904977_116904989del, NC_000007.14:g.116904979_116904989del, NC_000007.14:g.116904980_116904989del, NC_000007.14:g.116904983_116904989del, NC_000007.14:g.116904984_116904989del, NC_000007.14:g.116904985_116904989del, NC_000007.14:g.116904986_116904989del, NC_000007.14:g.116904987_116904989del, NC_000007.14:g.116904988_116904989del, NC_000007.14:g.116904989del, NC_000007.14:g.116904989dup, NC_000007.14:g.116904988_116904989dup, NC_000007.14:g.116904987_116904989dup, NC_000007.14:g.116904986_116904989dup, NC_000007.14:g.116904985_116904989dup, NC_000007.14:g.116904984_116904989dup, NC_000007.14:g.116904983_116904989dup, NC_000007.14:g.116904982_116904989dup, NC_000007.14:g.116904981_116904989dup, NC_000007.14:g.116904980_116904989dup, NC_000007.14:g.116904979_116904989dup, NC_000007.14:g.116904978_116904989dup, NC_000007.14:g.116904977_116904989dup, NC_000007.14:g.116904976_116904989dup, NC_000007.14:g.116904975_116904989dup, NC_000007.14:g.116904974_116904989dup, NC_000007.14:g.116904973_116904989dup, NC_000007.14:g.116904972_116904989dup, NC_000007.14:g.116904971_116904989dup, NC_000007.14:g.116904970_116904989dup, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.116904989_116904990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545029_116545043del, NC_000007.13:g.116545031_116545043del, NC_000007.13:g.116545033_116545043del, NC_000007.13:g.116545034_116545043del, NC_000007.13:g.116545037_116545043del, NC_000007.13:g.116545038_116545043del, NC_000007.13:g.116545039_116545043del, NC_000007.13:g.116545040_116545043del, NC_000007.13:g.116545041_116545043del, NC_000007.13:g.116545042_116545043del, NC_000007.13:g.116545043del, NC_000007.13:g.116545043dup, NC_000007.13:g.116545042_116545043dup, NC_000007.13:g.116545041_116545043dup, NC_000007.13:g.116545040_116545043dup, NC_000007.13:g.116545039_116545043dup, NC_000007.13:g.116545038_116545043dup, NC_000007.13:g.116545037_116545043dup, NC_000007.13:g.116545036_116545043dup, NC_000007.13:g.116545035_116545043dup, NC_000007.13:g.116545034_116545043dup, NC_000007.13:g.116545033_116545043dup, NC_000007.13:g.116545032_116545043dup, NC_000007.13:g.116545031_116545043dup, NC_000007.13:g.116545030_116545043dup, NC_000007.13:g.116545029_116545043dup, NC_000007.13:g.116545028_116545043dup, NC_000007.13:g.116545027_116545043dup, NC_000007.13:g.116545026_116545043dup, NC_000007.13:g.116545025_116545043dup, NC_000007.13:g.116545024_116545043dup, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.116545043_116545044insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149105576514.

rs1491055765 has merged into rs1233642258 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 7:116901913 (GRCh38)
7:116541967 (GRCh37)
Canonical SPDI:: NC_000007.14:116901911:TAT:T,NC_000007.14:116901911:TAT:TATAT
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.116901913_116901914del, NC_000007.14:g.116901913_116901914dup, NC_000007.13:g.116541967_116541968del, NC_000007.13:g.116541967_116541968dup

Select item 149104942615.

rs1491049426 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:116865203 (GRCh38)
7:116505257 (GRCh37)
Canonical SPDI:: NC_000007.14:116865202:TG:
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.116865203_116865204del, NC_000007.13:g.116505257_116505258del

Select item 149104265516.

rs1491042655 has merged into rs1554410805 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:116901895 (GRCh38)
7:116541949 (GRCh37)
Canonical SPDI:: NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:116901881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.116901883GT[6], NC_000007.14:g.116901883GT[9], NC_000007.14:g.116901883GT[10], NC_000007.14:g.116901883GT[11], NC_000007.14:g.116901883GT[12], NC_000007.14:g.116901883GT[13], NC_000007.14:g.116901883GT[14], NC_000007.14:g.116901883GT[16], NC_000007.14:g.116901883GT[17], NC_000007.14:g.116901883GT[18], NC_000007.14:g.116901883GT[19], NC_000007.14:g.116901883GT[20], NC_000007.14:g.116901883GT[21], NC_000007.14:g.116901883GT[22], NC_000007.14:g.116901883GT[23], NC_000007.14:g.116901883GT[24], NC_000007.14:g.116901883GT[25], NC_000007.14:g.116901883GT[26], NC_000007.13:g.116541937GT[6], NC_000007.13:g.116541937GT[9], NC_000007.13:g.116541937GT[10], NC_000007.13:g.116541937GT[11], NC_000007.13:g.116541937GT[12], NC_000007.13:g.116541937GT[13], NC_000007.13:g.116541937GT[14], NC_000007.13:g.116541937GT[16], NC_000007.13:g.116541937GT[17], NC_000007.13:g.116541937GT[18], NC_000007.13:g.116541937GT[19], NC_000007.13:g.116541937GT[20], NC_000007.13:g.116541937GT[21], NC_000007.13:g.116541937GT[22], NC_000007.13:g.116541937GT[23], NC_000007.13:g.116541937GT[24], NC_000007.13:g.116541937GT[25], NC_000007.13:g.116541937GT[26]

Select item 149092388517.

rs1490923885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:116912252 (GRCh38)
7:116552306 (GRCh37)
Canonical SPDI:: NC_000007.14:116912251:A:T
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.116912252A>T, NC_000007.13:g.116552306A>T

Select item 149088427718.

rs1490884277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:116894577 (GRCh38)
7:116534631 (GRCh37)
Canonical SPDI:: NC_000007.14:116894576:A:C
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.116894577A>C, NC_000007.13:g.116534631A>C

Select item 149079831519.

rs1490798315 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTTTTTTTTTT>- [Show Flanks]
Chromosome:: 7:116865177 (GRCh38)
7:116505231 (GRCh37)
Canonical SPDI:: NC_000007.14:116865174:TTCTTTTTTTTTTTT:TT
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.116865177_116865189del, NC_000007.13:g.116505231_116505243del

Select item 149069684820.

rs1490696848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:116875297 (GRCh38)
7:116515351 (GRCh37)
Canonical SPDI:: NC_000007.14:116875296:C:T
Gene:: CAPZA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.116875297C>T, NC_000007.13:g.116515351C>T

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity