SNP Links for Gene (Select 219287) - SNP

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Select item 14914712591.

rs1491471259 has merged into rs71077446 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 13:25164586 (GRCh38)
13:25738724 (GRCh37)
Canonical SPDI:: NC_000013.11:25164578:AGAGAGAGAGAGA:AGAGAGA,NC_000013.11:25164578:AGAGAGAGAGAGA:AGAGAGAGA,NC_000013.11:25164578:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000013.11:25164578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000013.11:25164578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
AG=0.05/30 (NorthernSweden)
AG=0.06769/339 (1000Genomes)
AG=0.125/26 (Vietnamese)
AG=0.23558/3948 (TOMMO)
HGVS:: NC_000013.11:g.25164580GA[3], NC_000013.11:g.25164580GA[4], NC_000013.11:g.25164580GA[5], NC_000013.11:g.25164580GA[7], NC_000013.11:g.25164580GA[8], NC_000013.10:g.25738718GA[3], NC_000013.10:g.25738718GA[4], NC_000013.10:g.25738718GA[5], NC_000013.10:g.25738718GA[7], NC_000013.10:g.25738718GA[8], XM_005266280.5:c.*5014CT[3], XM_005266280.5:c.*5014CT[4], XM_005266280.5:c.*5014CT[5], XM_005266280.5:c.*5014CT[7], XM_005266280.5:c.*5014CT[8], XM_005266280.4:c.*5014CT[3], XM_005266280.4:c.*5014CT[4], XM_005266280.4:c.*5014CT[5], XM_005266280.4:c.*5014CT[7], XM_005266280.4:c.*5014CT[8], XM_005266280.3:c.*5014CT[3], XM_005266280.3:c.*5014CT[4], XM_005266280.3:c.*5014CT[5], XM_005266280.3:c.*5014CT[7], XM_005266280.3:c.*5014CT[8], XM_005266280.2:c.*5014CT[3], XM_005266280.2:c.*5014CT[4], XM_005266280.2:c.*5014CT[5], XM_005266280.2:c.*5014CT[7], XM_005266280.2:c.*5014CT[8], XM_005266280.1:c.*5014CT[3], XM_005266280.1:c.*5014CT[4], XM_005266280.1:c.*5014CT[5], XM_005266280.1:c.*5014CT[7], XM_005266280.1:c.*5014CT[8], XM_005266279.5:c.*5014CT[3], XM_005266279.5:c.*5014CT[4], XM_005266279.5:c.*5014CT[5], XM_005266279.5:c.*5014CT[7], XM_005266279.5:c.*5014CT[8], XM_005266279.4:c.*5014CT[3], XM_005266279.4:c.*5014CT[4], XM_005266279.4:c.*5014CT[5], XM_005266279.4:c.*5014CT[7], XM_005266279.4:c.*5014CT[8], XM_005266279.3:c.*5014CT[3], XM_005266279.3:c.*5014CT[4], XM_005266279.3:c.*5014CT[5], XM_005266279.3:c.*5014CT[7], XM_005266279.3:c.*5014CT[8], XM_005266279.2:c.*5014CT[3], XM_005266279.2:c.*5014CT[4], XM_005266279.2:c.*5014CT[5], XM_005266279.2:c.*5014CT[7], XM_005266279.2:c.*5014CT[8], XM_005266279.1:c.*5014CT[3], XM_005266279.1:c.*5014CT[4], XM_005266279.1:c.*5014CT[5], XM_005266279.1:c.*5014CT[7], XM_005266279.1:c.*5014CT[8], NM_152704.4:c.*5014CT[3], NM_152704.4:c.*5014CT[4], NM_152704.4:c.*5014CT[5], NM_152704.4:c.*5014CT[7], NM_152704.4:c.*5014CT[8], NM_152704.3:c.*5014CT[3], NM_152704.3:c.*5014CT[4], NM_152704.3:c.*5014CT[5], NM_152704.3:c.*5014CT[7], NM_152704.3:c.*5014CT[8], XM_017020415.2:c.*5014CT[3], XM_017020415.2:c.*5014CT[4], XM_017020415.2:c.*5014CT[5], XM_017020415.2:c.*5014CT[7], XM_017020415.2:c.*5014CT[8], XM_017020415.1:c.*5014CT[3], XM_017020415.1:c.*5014CT[4], XM_017020415.1:c.*5014CT[5], XM_017020415.1:c.*5014CT[7], XM_017020415.1:c.*5014CT[8], NM_199138.2:c.*5014CT[3], NM_199138.2:c.*5014CT[4], NM_199138.2:c.*5014CT[5], NM_199138.2:c.*5014CT[7], NM_199138.2:c.*5014CT[8]

Select item 14908874472.

rs1490887447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:25170828 (GRCh38)
13:25744966 (GRCh37)
Canonical SPDI:: NC_000013.11:25170827:T:G
Gene:: AMER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000013.11:g.25170828T>G, NC_000013.10:g.25744966T>G, XM_005266280.5:c.792A>C, XM_005266280.4:c.792A>C, XM_005266280.3:c.792A>C, XM_005266280.2:c.792A>C, XM_005266280.1:c.792A>C, XM_005266279.5:c.792A>C, XM_005266279.4:c.792A>C, XM_005266279.3:c.792A>C, XM_005266279.2:c.792A>C, XM_005266279.1:c.792A>C, NM_152704.4:c.792A>C, NM_152704.3:c.792A>C, NM_152704.2:c.792A>C, XM_017020415.2:c.792A>C, XM_017020415.1:c.792A>C

Select item 14908582923.

rs1490858292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:25172535 (GRCh38)
13:25746673 (GRCh37)
Canonical SPDI:: NC_000013.11:25172534:G:A
Gene:: AMER2 (Varview), LINC00463 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.25172535G>A, NC_000013.10:g.25746673G>A

Select item 14906841704.

rs1490684170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:25163912 (GRCh38)
13:25738050 (GRCh37)
Canonical SPDI:: NC_000013.11:25163911:C:A,NC_000013.11:25163911:C:T
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
A=0.000684/2 (KOREAN)
HGVS:: NC_000013.11:g.25163912C>A, NC_000013.11:g.25163912C>T, NC_000013.10:g.25738050C>A, NC_000013.10:g.25738050C>T, XM_005266280.5:c.*5692G>T, XM_005266280.5:c.*5692G>A, XM_005266280.4:c.*5692G>T, XM_005266280.4:c.*5692G>A, XM_005266280.3:c.*5692G>T, XM_005266280.3:c.*5692G>A, XM_005266280.2:c.*5692G>T, XM_005266280.2:c.*5692G>A, XM_005266280.1:c.*5692G>T, XM_005266280.1:c.*5692G>A, XM_005266279.5:c.*5692G>T, XM_005266279.5:c.*5692G>A, XM_005266279.4:c.*5692G>T, XM_005266279.4:c.*5692G>A, XM_005266279.3:c.*5692G>T, XM_005266279.3:c.*5692G>A, XM_005266279.2:c.*5692G>T, XM_005266279.2:c.*5692G>A, XM_005266279.1:c.*5692G>T, XM_005266279.1:c.*5692G>A, NM_152704.4:c.*5692G>T, NM_152704.4:c.*5692G>A, NM_152704.3:c.*5692G>T, NM_152704.3:c.*5692G>A, XM_017020415.2:c.*5692G>T, XM_017020415.2:c.*5692G>A, XM_017020415.1:c.*5692G>T, XM_017020415.1:c.*5692G>A, NM_199138.2:c.*5692G>T, NM_199138.2:c.*5692G>A

Select item 14905480485.

rs1490548048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:25163506 (GRCh38)
13:25737645 (GRCh37)
Canonical SPDI:: NC_000013.11:25163506:AAAAAA:AAAAAAA
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.25163512dup, NC_000013.10:g.25737650dup, XM_005266280.5:c.*6097dup, XM_005266280.4:c.*6097dup, XM_005266280.3:c.*6097dup, XM_005266280.2:c.*6097dup, XM_005266280.1:c.*6097dup, XM_005266279.5:c.*6097dup, XM_005266279.4:c.*6097dup, XM_005266279.3:c.*6097dup, XM_005266279.2:c.*6097dup, XM_005266279.1:c.*6097dup, NM_152704.4:c.*6097dup, NM_152704.3:c.*6097dup, XM_017020415.2:c.*6097dup, XM_017020415.1:c.*6097dup, NM_199138.2:c.*6097dup

Select item 14899944866.

rs1489994486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:25164759 (GRCh38)
13:25738897 (GRCh37)
Canonical SPDI:: NC_000013.11:25164758:A:C
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.25164759A>C, NC_000013.10:g.25738897A>C, XM_005266280.5:c.*4845T>G, XM_005266280.4:c.*4845T>G, XM_005266280.3:c.*4845T>G, XM_005266280.2:c.*4845T>G, XM_005266280.1:c.*4845T>G, XM_005266279.5:c.*4845T>G, XM_005266279.4:c.*4845T>G, XM_005266279.3:c.*4845T>G, XM_005266279.2:c.*4845T>G, XM_005266279.1:c.*4845T>G, NM_152704.4:c.*4845T>G, NM_152704.3:c.*4845T>G, XM_017020415.2:c.*4845T>G, XM_017020415.1:c.*4845T>G, NM_199138.2:c.*4845T>G

Select item 14896290457.

rs1489629045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:25172994 (GRCh38)
13:25747132 (GRCh37)
Canonical SPDI:: NC_000013.11:25172993:C:T
Gene:: AMER2 (Varview), LINC00463 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.25172994C>T, NC_000013.10:g.25747132C>T, NR_120428.1:n.903G>A

Select item 14895158128.

rs1489515812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:25171890 (GRCh38)
13:25746028 (GRCh37)
Canonical SPDI:: NC_000013.11:25171889:A:G
Gene:: AMER2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25171890A>G, NC_000013.10:g.25746028A>G, NM_152704.4:c.-271T>C, NM_152704.3:c.-271T>C

Select item 14893428579.

rs1489342857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:25162533 (GRCh38)
13:25736671 (GRCh37)
Canonical SPDI:: NC_000013.11:25162532:G:A
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.25162533G>A, NC_000013.10:g.25736671G>A, XM_005266280.5:c.*7071C>T, XM_005266280.4:c.*7071C>T, XM_005266280.3:c.*7071C>T, XM_005266280.2:c.*7071C>T, XM_005266280.1:c.*7071C>T, XM_005266279.5:c.*7071C>T, XM_005266279.4:c.*7071C>T, XM_005266279.3:c.*7071C>T, XM_005266279.2:c.*7071C>T, XM_005266279.1:c.*7071C>T, NM_152704.4:c.*7071C>T, NM_152704.3:c.*7071C>T, XM_017020415.2:c.*7071C>T, XM_017020415.1:c.*7071C>T, NM_199138.2:c.*7071C>T

Select item 148929509910.

rs1489295099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:25162949 (GRCh38)
13:25737087 (GRCh37)
Canonical SPDI:: NC_000013.11:25162948:A:C
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25162949A>C, NC_000013.10:g.25737087A>C, XM_005266280.5:c.*6655T>G, XM_005266280.4:c.*6655T>G, XM_005266280.3:c.*6655T>G, XM_005266280.2:c.*6655T>G, XM_005266280.1:c.*6655T>G, XM_005266279.5:c.*6655T>G, XM_005266279.4:c.*6655T>G, XM_005266279.3:c.*6655T>G, XM_005266279.2:c.*6655T>G, XM_005266279.1:c.*6655T>G, NM_152704.4:c.*6655T>G, NM_152704.3:c.*6655T>G, XM_017020415.2:c.*6655T>G, XM_017020415.1:c.*6655T>G, NM_199138.2:c.*6655T>G

Select item 148926313611.

rs1489263136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:25162957 (GRCh38)
13:25737095 (GRCh37)
Canonical SPDI:: NC_000013.11:25162956:A:T
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25162957A>T, NC_000013.10:g.25737095A>T, XM_005266280.5:c.*6647T>A, XM_005266280.4:c.*6647T>A, XM_005266280.3:c.*6647T>A, XM_005266280.2:c.*6647T>A, XM_005266280.1:c.*6647T>A, XM_005266279.5:c.*6647T>A, XM_005266279.4:c.*6647T>A, XM_005266279.3:c.*6647T>A, XM_005266279.2:c.*6647T>A, XM_005266279.1:c.*6647T>A, NM_152704.4:c.*6647T>A, NM_152704.3:c.*6647T>A, XM_017020415.2:c.*6647T>A, XM_017020415.1:c.*6647T>A, NM_199138.2:c.*6647T>A

Select item 148922226812.

rs1489222268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:25164867 (GRCh38)
13:25739005 (GRCh37)
Canonical SPDI:: NC_000013.11:25164866:C:A
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.25164867C>A, NC_000013.10:g.25739005C>A, XM_005266280.5:c.*4737G>T, XM_005266280.4:c.*4737G>T, XM_005266280.3:c.*4737G>T, XM_005266280.2:c.*4737G>T, XM_005266280.1:c.*4737G>T, XM_005266279.5:c.*4737G>T, XM_005266279.4:c.*4737G>T, XM_005266279.3:c.*4737G>T, XM_005266279.2:c.*4737G>T, XM_005266279.1:c.*4737G>T, NM_152704.4:c.*4737G>T, NM_152704.3:c.*4737G>T, XM_017020415.2:c.*4737G>T, XM_017020415.1:c.*4737G>T, NM_199138.2:c.*4737G>T

Select item 148914907113.

rs1489149071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:25173312 (GRCh38)
13:25747450 (GRCh37)
Canonical SPDI:: NC_000013.11:25173311:C:T
Gene:: AMER2 (Varview), LINC00463 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.00006/16 (TOPMED)
HGVS:: NC_000013.11:g.25173312C>T, NC_000013.10:g.25747450C>T, NR_120428.1:n.585G>A

Select item 148899413214.

rs1488994132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:25161609 (GRCh38)
13:25735747 (GRCh37)
Canonical SPDI:: NC_000013.11:25161608:T:G
Gene:: AMER2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.25161609T>G, NC_000013.10:g.25735747T>G

Select item 148896707515.

rs1488967075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:25170883 (GRCh38)
13:25745021 (GRCh37)
Canonical SPDI:: NC_000013.11:25170882:C:T
Gene:: AMER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25170883C>T, NC_000013.10:g.25745021C>T, XM_005266280.5:c.737G>A, XM_005266280.4:c.737G>A, XM_005266280.3:c.737G>A, XM_005266280.2:c.737G>A, XM_005266280.1:c.737G>A, XM_005266279.5:c.737G>A, XM_005266279.4:c.737G>A, XM_005266279.3:c.737G>A, XM_005266279.2:c.737G>A, XM_005266279.1:c.737G>A, NM_152704.4:c.737G>A, NM_152704.3:c.737G>A, NM_152704.2:c.737G>A, XM_017020415.2:c.737G>A, XM_017020415.1:c.737G>A, NM_199138.2:c.737G>A, NM_199138.1:c.737G>A, XP_005266337.1:p.Arg246His, XP_005266336.1:p.Arg246His, NP_689917.2:p.Arg246His, XP_016875904.1:p.Arg246His, NP_954589.1:p.Arg246His

Select item 148889494816.

rs1488894948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:25162521 (GRCh38)
13:25736659 (GRCh37)
Canonical SPDI:: NC_000013.11:25162520:G:A,NC_000013.11:25162520:G:T
Gene:: AMER2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.25162521G>A, NC_000013.11:g.25162521G>T, NC_000013.10:g.25736659G>A, NC_000013.10:g.25736659G>T, XM_005266280.5:c.*7083C>T, XM_005266280.5:c.*7083C>A, XM_005266280.4:c.*7083C>T, XM_005266280.4:c.*7083C>A, XM_005266280.3:c.*7083C>T, XM_005266280.3:c.*7083C>A, XM_005266280.2:c.*7083C>T, XM_005266280.2:c.*7083C>A, XM_005266280.1:c.*7083C>T, XM_005266280.1:c.*7083C>A, XM_005266279.5:c.*7083C>T, XM_005266279.5:c.*7083C>A, XM_005266279.4:c.*7083C>T, XM_005266279.4:c.*7083C>A, XM_005266279.3:c.*7083C>T, XM_005266279.3:c.*7083C>A, XM_005266279.2:c.*7083C>T, XM_005266279.2:c.*7083C>A, XM_005266279.1:c.*7083C>T, XM_005266279.1:c.*7083C>A, NM_152704.4:c.*7083C>T, NM_152704.4:c.*7083C>A, NM_152704.3:c.*7083C>T, NM_152704.3:c.*7083C>A, XM_017020415.2:c.*7083C>T, XM_017020415.2:c.*7083C>A, XM_017020415.1:c.*7083C>T, XM_017020415.1:c.*7083C>A, NM_199138.2:c.*7083C>T, NM_199138.2:c.*7083C>A

Select item 148882445617.

rs1488824456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:25174253 (GRCh38)
13:25748391 (GRCh37)
Canonical SPDI:: NC_000013.11:25174252:G:A
Gene:: AMER2 (Varview), LINC00463 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.25174253G>A, NC_000013.10:g.25748391G>A

Select item 148869746918.

rs1488697469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:25172981 (GRCh38)
13:25747119 (GRCh37)
Canonical SPDI:: NC_000013.11:25172980:G:A,NC_000013.11:25172980:G:T
Gene:: AMER2 (Varview), LINC00463 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.25172981G>A, NC_000013.11:g.25172981G>T, NC_000013.10:g.25747119G>A, NC_000013.10:g.25747119G>T, NR_120428.1:n.916C>T, NR_120428.1:n.916C>A

Select item 148763444919.

rs1487634449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCCTCTCCCCCTGCGGGCTC [Show Flanks]
Chromosome:: 13:25170814 (GRCh38)
13:25744953 (GRCh37)
Canonical SPDI:: NC_000013.11:25170814:CCTCCTCTCCCCCTGCGGGCTC:CCTCCTCTCCCCCTGCGGGCTCCTCCTCTCCCCCTGCGGGCTC
Gene:: AMER2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,intron_variant
HGVS:: NC_000013.11:g.25170816_25170836dup, NC_000013.10:g.25744954_25744974dup, XM_005266280.5:c.785_805dup, XM_005266280.4:c.785_805dup, XM_005266280.3:c.785_805dup, XM_005266280.2:c.785_805dup, XM_005266280.1:c.785_805dup, XM_005266279.5:c.785_805dup, XM_005266279.4:c.785_805dup, XM_005266279.3:c.785_805dup, XM_005266279.2:c.785_805dup, XM_005266279.1:c.785_805dup, NM_152704.4:c.785_805dup, NM_152704.3:c.785_805dup, NM_152704.2:c.785_805dup, XM_017020415.2:c.785_805dup, XM_017020415.1:c.785_805dup, XP_005266337.1:p.Glu262_Glu268dup, XP_005266336.1:p.Glu262_Glu268dup, NP_689917.2:p.Glu262_Glu268dup, XP_016875904.1:p.Glu262_Glu268dup

Select item 148733786820.

rs1487337868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:25171482 (GRCh38)
13:25745620 (GRCh37)
Canonical SPDI:: NC_000013.11:25171481:A:G
Gene:: AMER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25171482A>G, NC_000013.10:g.25745620A>G, XM_005266280.5:c.138T>C, XM_005266280.4:c.138T>C, XM_005266280.3:c.138T>C, XM_005266280.2:c.138T>C, XM_005266280.1:c.138T>C, XM_005266279.5:c.138T>C, XM_005266279.4:c.138T>C, XM_005266279.3:c.138T>C, XM_005266279.2:c.138T>C, XM_005266279.1:c.138T>C, NM_152704.4:c.138T>C, NM_152704.3:c.138T>C, NM_152704.2:c.138T>C, XM_017020415.2:c.138T>C, XM_017020415.1:c.138T>C, NM_199138.2:c.138T>C, NM_199138.1:c.138T>C

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