SNP Links for Gene (Select 2145) - SNP

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Select item 14914600361.

rs1491460036 has merged into rs66555154 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:42722161 (GRCh38)
17:40874179 (GRCh37)
Canonical SPDI:: NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42722148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EZH1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.42722161_42722170del, NC_000017.11:g.42722165_42722170del, NC_000017.11:g.42722166_42722170del, NC_000017.11:g.42722167_42722170del, NC_000017.11:g.42722168_42722170del, NC_000017.11:g.42722169_42722170del, NC_000017.11:g.42722170del, NC_000017.11:g.42722170dup, NC_000017.11:g.42722169_42722170dup, NC_000017.11:g.42722168_42722170dup, NC_000017.11:g.42722167_42722170dup, NC_000017.11:g.42722166_42722170dup, NC_000017.10:g.40874179_40874188del, NC_000017.10:g.40874183_40874188del, NC_000017.10:g.40874184_40874188del, NC_000017.10:g.40874185_40874188del, NC_000017.10:g.40874186_40874188del, NC_000017.10:g.40874187_40874188del, NC_000017.10:g.40874188del, NC_000017.10:g.40874188dup, NC_000017.10:g.40874187_40874188dup, NC_000017.10:g.40874186_40874188dup, NC_000017.10:g.40874185_40874188dup, NC_000017.10:g.40874184_40874188dup

Select item 14914369182.

rs1491436918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:42713053 (GRCh38)
17:40865072 (GRCh37)
Canonical SPDI:: NC_000017.11:42713053:A:AGA
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.000035/1 (TOMMO)
AG=0.00028/39 (GnomAD)
HGVS:: NC_000017.11:g.42713054_42713055insGA, NC_000017.10:g.40865072_40865073insGA

Select item 14913954303.

rs1491395430 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 17:42714954 (GRCh38)
17:40866973 (GRCh37)
Canonical SPDI:: NC_000017.11:42714954:T:TTT
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42714955_42714956insTT, NC_000017.10:g.40866973_40866974insTT

Select item 14913048334.

rs1491304833 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42722148 (GRCh38)
17:40874166 (GRCh37)
Canonical SPDI:: NC_000017.11:42722147:CA:
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.42722148_42722149del, NC_000017.10:g.40874166_40874167del

Select item 14912506755.

rs1491250675 has merged into rs5820471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42710796 (GRCh38)
17:40862814 (GRCh37)
Canonical SPDI:: NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42710782:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.051318/257 (1000Genomes)
HGVS:: NC_000017.11:g.42710796_42710803del, NC_000017.11:g.42710797_42710803del, NC_000017.11:g.42710798_42710803del, NC_000017.11:g.42710799_42710803del, NC_000017.11:g.42710800_42710803del, NC_000017.11:g.42710801_42710803del, NC_000017.11:g.42710802_42710803del, NC_000017.11:g.42710803del, NC_000017.11:g.42710803dup, NC_000017.11:g.42710802_42710803dup, NC_000017.11:g.42710801_42710803dup, NC_000017.11:g.42710800_42710803dup, NC_000017.11:g.42710799_42710803dup, NC_000017.11:g.42710798_42710803dup, NC_000017.11:g.42710796_42710803dup, NC_000017.11:g.42710795_42710803dup, NC_000017.11:g.42710794_42710803dup, NC_000017.10:g.40862814_40862821del, NC_000017.10:g.40862815_40862821del, NC_000017.10:g.40862816_40862821del, NC_000017.10:g.40862817_40862821del, NC_000017.10:g.40862818_40862821del, NC_000017.10:g.40862819_40862821del, NC_000017.10:g.40862820_40862821del, NC_000017.10:g.40862821del, NC_000017.10:g.40862821dup, NC_000017.10:g.40862820_40862821dup, NC_000017.10:g.40862819_40862821dup, NC_000017.10:g.40862818_40862821dup, NC_000017.10:g.40862817_40862821dup, NC_000017.10:g.40862816_40862821dup, NC_000017.10:g.40862814_40862821dup, NC_000017.10:g.40862813_40862821dup, NC_000017.10:g.40862812_40862821dup

Select item 14912492336.

rs1491249233 [Homo sapiens]

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

Select item 14912372327.

rs1491237232 has merged into rs1215396550 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 17:42714957 (GRCh38)
17:40866975 (GRCh37)
Canonical SPDI:: NC_000017.11:42714953:ATATATA:ATA,NC_000017.11:42714953:ATATATA:ATATA
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.42714955TA[1], NC_000017.11:g.42714955TA[2], NC_000017.10:g.40866973TA[1], NC_000017.10:g.40866973TA[2]

Select item 14911274748.

rs1491127474 has merged into rs10664421 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:42713048 (GRCh38)
17:40865066 (GRCh37)
Canonical SPDI:: NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42713037:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.42713048_42713058del, NC_000017.11:g.42713049_42713058del, NC_000017.11:g.42713050_42713058del, NC_000017.11:g.42713051_42713058del, NC_000017.11:g.42713052_42713058del, NC_000017.11:g.42713053_42713058del, NC_000017.11:g.42713054_42713058del, NC_000017.11:g.42713055_42713058del, NC_000017.11:g.42713056_42713058del, NC_000017.11:g.42713057_42713058del, NC_000017.11:g.42713058del, NC_000017.11:g.42713058dup, NC_000017.11:g.42713057_42713058dup, NC_000017.11:g.42713056_42713058dup, NC_000017.11:g.42713055_42713058dup, NC_000017.11:g.42713052_42713058dup, NC_000017.11:g.42713051_42713058dup, NC_000017.11:g.42713049_42713058dup, NC_000017.11:g.42713048_42713058dup, NC_000017.11:g.42713047_42713058dup, NC_000017.11:g.42713044_42713058dup, NC_000017.11:g.42713058_42713059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.42713058_42713059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.40865066_40865076del, NC_000017.10:g.40865067_40865076del, NC_000017.10:g.40865068_40865076del, NC_000017.10:g.40865069_40865076del, NC_000017.10:g.40865070_40865076del, NC_000017.10:g.40865071_40865076del, NC_000017.10:g.40865072_40865076del, NC_000017.10:g.40865073_40865076del, NC_000017.10:g.40865074_40865076del, NC_000017.10:g.40865075_40865076del, NC_000017.10:g.40865076del, NC_000017.10:g.40865076dup, NC_000017.10:g.40865075_40865076dup, NC_000017.10:g.40865074_40865076dup, NC_000017.10:g.40865073_40865076dup, NC_000017.10:g.40865070_40865076dup, NC_000017.10:g.40865069_40865076dup, NC_000017.10:g.40865067_40865076dup, NC_000017.10:g.40865066_40865076dup, NC_000017.10:g.40865065_40865076dup, NC_000017.10:g.40865062_40865076dup, NC_000017.10:g.40865076_40865077insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.40865076_40865077insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910840459.

rs1491084045 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:42710629 (GRCh38)
17:40862647 (GRCh37)
Canonical SPDI:: NC_000017.11:42710627:TGT:T
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000154/21 (GnomAD)
-=0.006011/11 (Korea1K)
HGVS:: NC_000017.11:g.42710629_42710630del, NC_000017.10:g.40862647_40862648del

Select item 149104513610.

rs1491045136 has merged into rs61706510 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 17:42734677 (GRCh38)
17:40886695 (GRCh37)
Canonical SPDI:: NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42734666:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.42734677_42734682del, NC_000017.11:g.42734678_42734682del, NC_000017.11:g.42734679_42734682del, NC_000017.11:g.42734680_42734682del, NC_000017.11:g.42734681_42734682del, NC_000017.11:g.42734682del, NC_000017.11:g.42734682dup, NC_000017.10:g.40886695_40886700del, NC_000017.10:g.40886696_40886700del, NC_000017.10:g.40886697_40886700del, NC_000017.10:g.40886698_40886700del, NC_000017.10:g.40886699_40886700del, NC_000017.10:g.40886700del, NC_000017.10:g.40886700dup

Select item 149099016111.

rs1490990161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42742183 (GRCh38)
17:40894201 (GRCh37)
Canonical SPDI:: NC_000017.11:42742182:C:A
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42742183C>A, NC_000017.10:g.40894201C>A

Select item 149096091912.

rs1490960919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42726344 (GRCh38)
17:40878362 (GRCh37)
Canonical SPDI:: NC_000017.11:42726343:C:T
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42726344C>T, NC_000017.10:g.40878362C>T

Select item 149095417713.

rs1490954177 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTCAATCCCAACCTATCTAATTATCTTC>- [Show Flanks]
Chromosome:: 17:42741057 (GRCh38)
17:40893075 (GRCh37)
Canonical SPDI:: NC_000017.11:42741052:CTTCCCCTCAATCCCAACCTATCTAATTATCTTC:CTTC
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0.000084/1 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000017.11:g.42741057_42741086del, NC_000017.10:g.40893075_40893104del

Select item 149093699014.

rs1490936990 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:42726881 (GRCh38)
17:40878899 (GRCh37)
Canonical SPDI:: NC_000017.11:42726879:CAC:C
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.42726881_42726882del, NC_000017.10:g.40878899_40878900del

Select item 149074489415.

rs1490744894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:42725931 (GRCh38)
17:40877949 (GRCh37)
Canonical SPDI:: NC_000017.11:42725930:T:C,NC_000017.11:42725930:T:G
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42725931T>C, NC_000017.11:g.42725931T>G, NC_000017.10:g.40877949T>C, NC_000017.10:g.40877949T>G

Select item 149069019516.

rs1490690195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42709770 (GRCh38)
17:40861788 (GRCh37)
Canonical SPDI:: NC_000017.11:42709769:G:A
Gene:: EZH1 (Varview), MIR6780A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.42709770G>A, NC_000017.10:g.40861788G>A

Select item 149059500917.

rs1490595009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42705370 (GRCh38)
17:40857388 (GRCh37)
Canonical SPDI:: NC_000017.11:42705369:C:T
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.42705370C>T, NC_000017.10:g.40857388C>T

Select item 149050921518.

rs1490509215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42733565 (GRCh38)
17:40885583 (GRCh37)
Canonical SPDI:: NC_000017.11:42733564:C:T
Gene:: EZH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.42733565C>T, NC_000017.10:g.40885583C>T

Select item 149040082519.

rs1490400825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:42717318 (GRCh38)
17:40869336 (GRCh37)
Canonical SPDI:: NC_000017.11:42717317:T:A
Gene:: EZH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42717318T>A, NC_000017.10:g.40869336T>A

Select item 149037543520.

rs1490375435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42718598 (GRCh38)
17:40870616 (GRCh37)
Canonical SPDI:: NC_000017.11:42718597:T:C
Gene:: EZH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42718598T>C, NC_000017.10:g.40870616T>C, NM_001991.5:c.787A>G, NM_001991.4:c.787A>G, NM_001991.3:c.787A>G, XM_011524517.3:c.778A>G, XM_011524517.2:c.778A>G, XM_011524517.1:c.778A>G, XM_005257145.3:c.685A>G, XM_005257145.2:c.685A>G, XM_005257145.1:c.685A>G, NM_001321081.2:c.760A>G, NM_001321081.1:c.760A>G, NM_001321079.2:c.805A>G, NM_001321079.1:c.805A>G, NM_001321082.2:c.667A>G, NM_001321082.1:c.667A>G, NP_001982.2:p.Met263Val, XP_011522819.1:p.Met260Val, XP_005257202.1:p.Met229Val, NP_001308010.1:p.Met254Val, NP_001308008.1:p.Met269Val, NP_001308011.1:p.Met223Val

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