SNP Links for Gene (Select 51397) - SNP

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Select item 14915891891.

rs1491589189 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:116225353 (GRCh38)
5:115561050 (GRCh37)
Canonical SPDI:: NC_000005.10:116225352:GA:
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00059/10 (TOMMO)
-=0.00094/6 (1000Genomes)
-=0.00163/66 (GnomAD)
HGVS:: NC_000005.10:g.116225353_116225354del, NC_000005.9:g.115561050_115561051del

Select item 14915884652.

rs1491588465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:116246154 (GRCh38)
5:115581852 (GRCh37)
Canonical SPDI:: NC_000005.10:116246154:T:TT
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.116246155dup, NC_000005.9:g.115581852dup

Select item 14915765283.

rs1491576528 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:116157940 (GRCh38)
5:115493638 (GRCh37)
Canonical SPDI:: NC_000005.10:116157940::A
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.116157940_116157941insA, NC_000005.9:g.115493637_115493638insA

Select item 14915725594.

rs1491572559 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,TC,TTTTTTC [Show Flanks]
Chromosome:: 5:116311926 (GRCh38)
5:115647624 (GRCh37)
Canonical SPDI:: NC_000005.10:116311926::A,NC_000005.10:116311926::C,NC_000005.10:116311926::TC,NC_000005.10:116311926::TTTTTTC
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.116311926_116311927insA, NC_000005.10:g.116311926_116311927insC, NC_000005.10:g.116311926_116311927insTC, NC_000005.10:g.116311926_116311927insTTTTTTC, NC_000005.9:g.115647623_115647624insA, NC_000005.9:g.115647623_115647624insC, NC_000005.9:g.115647623_115647624insTC, NC_000005.9:g.115647623_115647624insTTTTTTC

Select item 14915616505.

rs1491561650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:116176965 (GRCh38)
5:115512663 (GRCh37)
Canonical SPDI:: NC_000005.10:116176965:A:AA
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.116176966dup, NC_000005.9:g.115512663dup

Select item 14915614606.

rs1491561460 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:116311926 (GRCh38)
5:115647623 (GRCh37)
Canonical SPDI:: NC_000005.10:116311925:TG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00118/14 (ALFA)
-=0.00618/103 (TOMMO)
HGVS:: NC_000005.10:g.116311926_116311927del, NC_000005.9:g.115647623_115647624del

Select item 14915465457.

rs1491546545 has merged into rs35133023 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:116154797 (GRCh38)
5:115490494 (GRCh37)
Canonical SPDI:: NC_000005.10:116154787:TTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:116154787:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:116154787:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:116154787:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:116154787:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:116154787:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.0079/38 (ALFA)
TT=0.1481/549 (TWINSUK)
TT=0.1552/598 (ALSPAC)
TT=0.2589/1206 (1000Genomes)
HGVS:: NC_000005.10:g.116154797_116154800del, NC_000005.10:g.116154798_116154800del, NC_000005.10:g.116154799_116154800del, NC_000005.10:g.116154800del, NC_000005.10:g.116154800dup, NC_000005.10:g.116154799_116154800dup, NC_000005.9:g.115490494_115490497del, NC_000005.9:g.115490495_115490497del, NC_000005.9:g.115490496_115490497del, NC_000005.9:g.115490497del, NC_000005.9:g.115490497dup, NC_000005.9:g.115490496_115490497dup

Select item 14915337408.

rs1491533740 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 5:116158174 (GRCh38)
5:115493872 (GRCh37)
Canonical SPDI:: NC_000005.10:116158174::CT
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.116158174_116158175insCT, NC_000005.9:g.115493871_115493872insCT

Select item 14915300279.

rs1491530027 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:116335186 (GRCh38)
5:115670883 (GRCh37)
Canonical SPDI:: NC_000005.10:116335185:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.116335186_116335187del, NC_000005.9:g.115670883_115670884del

Select item 149152591710.

rs1491525917 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTTTT,GTTTT,GTTTTTTTTTTTGTTTT [Show Flanks]
Chromosome:: 5:116434949 (GRCh38)
5:115770646 (GRCh37)
Canonical SPDI:: NC_000005.10:116434949:TTTT:TTTTGGTTTT,NC_000005.10:116434949:TTTT:TTTTGTTTT,NC_000005.10:116434949:TTTT:TTTTGTTTTTTTTTTTGTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTT=0.0054/64 (ALFA)
TTTTG=0.00954/17 (Korea1K)
HGVS:: NC_000005.10:g.116434950_116434953T[4]GGTTTT[1], NC_000005.10:g.116434950_116434953T[4]GTTTT[1], NC_000005.10:g.116434950_116434953T[4]GTTTTTTTTTTTGTTTT[1], NC_000005.9:g.115770646_115770649T[4]GGTTTT[1], NC_000005.9:g.115770646_115770649T[4]GTTTT[1], NC_000005.9:g.115770646_115770649T[4]GTTTTTTTTTTTGTTTT[1]

Select item 149151898311.

rs1491518983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 5:116430760 (GRCh38)
5:115766458 (GRCh37)
Canonical SPDI:: NC_000005.10:116430760:A:AAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000083/1 (ALFA)
AA=0.000191/22 (GnomAD)
AA=0.000227/1 (Estonian)
HGVS:: NC_000005.10:g.116430761_116430762insAA, NC_000005.9:g.115766458_115766459insAA

Select item 149151572312.

rs1491515723 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:116400936 (GRCh38)
5:115736633 (GRCh37)
Canonical SPDI:: NC_000005.10:116400935:TA:
Validated:: by frequency,by alfa
MAF:: -=0.000307/5 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.116400936_116400937del, NC_000005.9:g.115736633_115736634del

Select item 149151222813.

rs1491512228 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:116158862 (GRCh38)
5:115494559 (GRCh37)
Canonical SPDI:: NC_000005.10:116158861:TC:
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.116158862_116158863del, NC_000005.9:g.115494559_115494560del

Select item 149150700714.

rs1491507007 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:116332982 (GRCh38)
5:115668679 (GRCh37)
Canonical SPDI:: NC_000005.10:116332981:TA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.116332982_116332983del, NC_000005.9:g.115668679_115668680del

Select item 149150195815.

rs1491501958 has merged into rs60896923 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 5:116400933 (GRCh38)
5:115736630 (GRCh37)
Canonical SPDI:: NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:116400918:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.391/1958 (1000Genomes)
HGVS:: NC_000005.10:g.116400933_116400936del, NC_000005.10:g.116400934_116400936del, NC_000005.10:g.116400935_116400936del, NC_000005.10:g.116400936del, NC_000005.10:g.116400936dup, NC_000005.10:g.116400935_116400936dup, NC_000005.10:g.116400934_116400936dup, NC_000005.10:g.116400932_116400936dup, NC_000005.9:g.115736630_115736633del, NC_000005.9:g.115736631_115736633del, NC_000005.9:g.115736632_115736633del, NC_000005.9:g.115736633del, NC_000005.9:g.115736633dup, NC_000005.9:g.115736632_115736633dup, NC_000005.9:g.115736631_115736633dup, NC_000005.9:g.115736629_115736633dup

Select item 149148000816.

rs1491480008 has merged into rs139704662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 5:116275970 (GRCh38)
5:115611667 (GRCh37)
Canonical SPDI:: NC_000005.10:116275958:TATATATATATATAT:TATATATATAT,NC_000005.10:116275958:TATATATATATATAT:TATATATATATAT,NC_000005.10:116275958:TATATATATATATAT:TATATATATATATATAT,NC_000005.10:116275958:TATATATATATATAT:TATATATATATATATATAT
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.10667/64 (NorthernSweden)
TA=0.10692/479 (Estonian)
TA=0.125/5 (GENOME_DK)
HGVS:: NC_000005.10:g.116275960AT[5], NC_000005.10:g.116275960AT[6], NC_000005.10:g.116275960AT[8], NC_000005.10:g.116275960AT[9], NC_000005.9:g.115611657AT[5], NC_000005.9:g.115611657AT[6], NC_000005.9:g.115611657AT[8], NC_000005.9:g.115611657AT[9]

Select item 149146800817.

rs1491468008 has merged into rs76882415 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:116157951 (GRCh38)
5:115493648 (GRCh37)
Canonical SPDI:: NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:116157939:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COMMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.116157951_116157954del, NC_000005.10:g.116157952_116157954del, NC_000005.10:g.116157953_116157954del, NC_000005.10:g.116157954del, NC_000005.10:g.116157954dup, NC_000005.10:g.116157953_116157954dup, NC_000005.10:g.116157952_116157954dup, NC_000005.10:g.116157945_116157954dup, NC_000005.9:g.115493648_115493651del, NC_000005.9:g.115493649_115493651del, NC_000005.9:g.115493650_115493651del, NC_000005.9:g.115493651del, NC_000005.9:g.115493651dup, NC_000005.9:g.115493650_115493651dup, NC_000005.9:g.115493649_115493651dup, NC_000005.9:g.115493642_115493651dup

Select item 149146735118.

rs1491467351 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:116327538 (GRCh38)
5:115663235 (GRCh37)
Canonical SPDI:: NC_000005.10:116327537:TA:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.116327538_116327539del, NC_000005.9:g.115663235_115663236del

Select item 149142231619.

rs1491422316 has merged into rs894107138 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
Chromosome:: 5:116430769 (GRCh38)
5:115766466 (GRCh37)
Canonical SPDI:: NC_000005.10:116430761:CCCCCCCCCC:CCCCCCC,NC_000005.10:116430761:CCCCCCCCCC:CCCCCCCC,NC_000005.10:116430761:CCCCCCCCCC:CCCCCCCCC,NC_000005.10:116430761:CCCCCCCCCC:CCCCCCCCCCC,NC_000005.10:116430761:CCCCCCCCCC:CCCCCCCCCCCC
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.116430769_116430771del, NC_000005.10:g.116430770_116430771del, NC_000005.10:g.116430771del, NC_000005.10:g.116430771dup, NC_000005.10:g.116430770_116430771dup, NC_000005.9:g.115766466_115766468del, NC_000005.9:g.115766467_115766468del, NC_000005.9:g.115766468del, NC_000005.9:g.115766468dup, NC_000005.9:g.115766467_115766468dup

Select item 149139755920.

rs1491397559 has merged into rs1274331131 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:116237467 (GRCh38)
5:115573164 (GRCh37)
Canonical SPDI:: NC_000005.10:116237466:AAAAAAAA:AAAAAAA,NC_000005.10:116237466:AAAAAAAA:AAAAAAAAA
Gene:: COMMD10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.116237474del, NC_000005.10:g.116237474dup, NC_000005.9:g.115573171del, NC_000005.9:g.115573171dup

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