SNP Links for Nucleotide (Select 255652920) - SNP

Links from Nucleotide

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Select item 14914770221.

rs1491477022 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:122634482 (GRCh38)
10:124393998 (GRCh37)
Canonical SPDI:: NC_000010.11:122634480:TTT:T
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00018/13 (GnomAD)
-=0.00022/4 (TOMMO)
HGVS:: NC_000010.11:g.122634482_122634483del, NC_000010.10:g.124393998_124393999del, NG_012644.1:g.78818_78819del

Select item 14913901032.

rs1491390103 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 10:122575524 (GRCh38)
10:124335040 (GRCh37)
Canonical SPDI:: NC_000010.11:122575523:GGGGGGG:GGGGGG,NC_000010.11:122575523:GGGGGGG:GGGGGGGG
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0.000061/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000106/3 (TOMMO)
-=0.000223/1 (Estonian)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000010.11:g.122575530del, NC_000010.11:g.122575530dup, NC_000010.10:g.124335046del, NC_000010.10:g.124335046dup, NG_012644.1:g.19866del, NG_012644.1:g.19866dup

Select item 14913806303.

rs1491380630 has merged into rs1491183019 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:122634376 (GRCh38)
10:124393892 (GRCh37)
Canonical SPDI:: NC_000010.11:122634374:TCT:T
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.026413/431 (ALFA)
-=0.033227/3635 (GnomAD)
-=0.056611/949 (TOMMO)
-=0.072767/466 (1000Genomes)
-=0.084142/312 (TWINSUK)
-=0.086404/333 (ALSPAC)
HGVS:: NC_000010.11:g.122634376_122634377del, NC_000010.10:g.124393892_124393893del, NG_012644.1:g.78712_78713del

Select item 14913664334.

rs1491366433 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 10:122634364 (GRCh38)
10:124393880 (GRCh37)
Canonical SPDI:: NC_000010.11:122634362:TCT:T,NC_000010.11:122634362:TCT:TCTCT
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.00006/6 (GnomAD)
HGVS:: NC_000010.11:g.122634364_122634365del, NC_000010.11:g.122634364_122634365dup, NC_000010.10:g.124393880_124393881del, NC_000010.10:g.124393880_124393881dup, NG_012644.1:g.78700_78701del, NG_012644.1:g.78700_78701dup

Select item 14911830195.

rs1491183019 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:122634376 (GRCh38)
10:124393892 (GRCh37)
Canonical SPDI:: NC_000010.11:122634374:TCT:T
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.026413/431 (ALFA)
-=0.033227/3635 (GnomAD)
-=0.056611/949 (TOMMO)
-=0.072767/466 (1000Genomes)
-=0.084142/312 (TWINSUK)
-=0.086404/333 (ALSPAC)
HGVS:: NC_000010.11:g.122634376_122634377del, NC_000010.10:g.124393892_124393893del, NG_012644.1:g.78712_78713del

Select item 14911640576.

rs1491164057 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:122634481 (GRCh38)
10:124393998 (GRCh37)
Canonical SPDI:: NC_000010.11:122634481::C
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000042/5 (GnomAD)
HGVS:: NC_000010.11:g.122634481_122634482insC, NC_000010.10:g.124393997_124393998insC, NG_012644.1:g.78817_78818insC

Select item 14910463787.

rs1491046378 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:122634388 (GRCh38)
10:124393904 (GRCh37)
Canonical SPDI:: NC_000010.11:122634386:TCT:T
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000558/9 (TOMMO)
-=0.004202/553 (GnomAD)
-=0.008588/55 (1000Genomes)
HGVS:: NC_000010.11:g.122634388_122634389del, NC_000010.10:g.124393904_124393905del, NG_012644.1:g.78724_78725del

Select item 14910378248.

rs1491037824 has merged into rs59835045 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:122561586 (GRCh38)
10:124321102 (GRCh37)
Canonical SPDI:: NC_000010.11:122561584:TTT:T
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122561586_122561587del, NC_000010.10:g.124321102_124321103del, NG_012644.1:g.5922_5923del

Select item 14909883629.

rs1490988362 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 10:122569206 (GRCh38)
10:124328722 (GRCh37)
Canonical SPDI:: NC_000010.11:122569205:CCCCC:CCCC,NC_000010.11:122569205:CCCCC:CCCCCC
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.122569210del, NC_000010.11:g.122569210dup, NC_000010.10:g.124328726del, NC_000010.10:g.124328726dup, NG_012644.1:g.13546del, NG_012644.1:g.13546dup

Select item 149097766610.

rs1490977666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:122618395 (GRCh38)
10:124377911 (GRCh37)
Canonical SPDI:: NC_000010.11:122618394:A:G
Gene:: DMBT1 (Varview)
Functional Consequence:: 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_000010.11:g.122618395A>G, NC_000010.10:g.124377911A>G, NG_012644.1:g.62731A>G

Select item 149089344911.

rs1490893449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:122601343 (GRCh38)
10:124360859 (GRCh37)
Canonical SPDI:: NC_000010.11:122601342:T:G
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00101/12 (ALFA)
G=0.00078/5 (1000Genomes)
G=0.00081/36 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.122601343T>G, NC_000010.10:g.124360859T>G, NG_012644.1:g.45679T>G

Select item 149081377212.

rs1490813772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:122639946 (GRCh38)
10:124399462 (GRCh37)
Canonical SPDI:: NC_000010.11:122639945:A:G
Gene:: DMBT1 (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_000010.11:g.122639946A>G, NC_000010.10:g.124399462A>G, NG_012644.1:g.84282A>G

Select item 149079886313.

rs1490798863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:122638914 (GRCh38)
10:124398430 (GRCh37)
Canonical SPDI:: NC_000010.11:122638913:T:C
Gene:: DMBT1 (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_000010.11:g.122638914T>C, NC_000010.10:g.124398430T>C, NG_012644.1:g.83250T>C

Select item 149072486014.

rs1490724860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:122563723 (GRCh38)
10:124323239 (GRCh37)
Canonical SPDI:: NC_000010.11:122563722:T:G
Gene:: DMBT1 (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_000010.11:g.122563723T>G, NC_000010.10:g.124323239T>G, NG_012644.1:g.8059T>G

Select item 149071888315.

rs1490718883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122624486 (GRCh38)
10:124384002 (GRCh37)
Canonical SPDI:: NC_000010.11:122624485:C:T
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.122624486C>T, NC_000010.10:g.124384002C>T, NG_012644.1:g.68822C>T

Select item 149069891216.

rs1490698912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:122564722 (GRCh38)
10:124324238 (GRCh37)
Canonical SPDI:: NC_000010.11:122564721:T:C,NC_000010.11:122564721:T:G
Gene:: DMBT1 (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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.122564722T>C, NC_000010.11:g.122564722T>G, NC_000010.10:g.124324238T>C, NC_000010.10:g.124324238T>G, NG_012644.1:g.9058T>C, NG_012644.1:g.9058T>G

Select item 149068084917.

rs1490680849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:122618359 (GRCh38)
10:124377875 (GRCh37)
Canonical SPDI:: NC_000010.11:122618358:G:C
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122618359G>C, NC_000010.10:g.124377875G>C, NG_012644.1:g.62695G>C

Select item 149067502218.

rs1490675022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:122577870 (GRCh38)
10:124337386 (GRCh37)
Canonical SPDI:: NC_000010.11:122577869:C:A
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122577870C>A, NC_000010.10:g.124337386C>A, NG_012644.1:g.22206C>A

Select item 149064928419.

rs1490649284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122640450 (GRCh38)
10:124399966 (GRCh37)
Canonical SPDI:: NC_000010.11:122640449:G:A
Gene:: DMBT1 (Varview)
Functional Consequence:: splice_donor_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_000010.11:g.122640450G>A, NC_000010.10:g.124399966G>A, NG_012644.1:g.84786G>A

Select item 149062670520.

rs1490626705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122627049 (GRCh38)
10:124386565 (GRCh37)
Canonical SPDI:: NC_000010.11:122627048:G:A
Gene:: DMBT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.122627049G>A, NC_000010.10:g.124386565G>A, NG_012644.1:g.71385G>A

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