SNP Links for Gene (Select 127254) - SNP

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Select item 14915577151.

rs1491557715 has merged into rs35132035 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:74652557 (GRCh38)
1:75118241 (GRCh37)
Canonical SPDI:: NC_000001.11:74652546:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:74652546:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:74652546:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:74652546:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.115426/428 (TWINSUK)
-=0.125324/483 (ALSPAC)
-=0.138333/83 (NorthernSweden)
-=0.175/7 (GENOME_DK)
-=0.180003/47645 (TOPMED)
-=0.253195/1268 (1000Genomes)
HGVS:: NC_000001.11:g.74652557_74652558del, NC_000001.11:g.74652558del, NC_000001.11:g.74652558dup, NC_000001.11:g.74652557_74652558dup, NC_000001.10:g.75118241_75118242del, NC_000001.10:g.75118242del, NC_000001.10:g.75118242dup, NC_000001.10:g.75118241_75118242dup

Select item 14914766662.

rs1491476666 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:74587324 (GRCh38)
1:75053008 (GRCh37)
Canonical SPDI:: NC_000001.11:74587323:CA:
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00086/24 (TOMMO)
HGVS:: NC_000001.11:g.74587324_74587325del, NC_000001.10:g.75053008_75053009del

Select item 14914317743.

rs1491431774 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:74614367 (GRCh38)
1:75080051 (GRCh37)
Canonical SPDI:: NC_000001.11:74614366:TA:
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00032/9 (TOMMO)
HGVS:: NC_000001.11:g.74614367_74614368del, NC_000001.10:g.75080051_75080052del

Select item 14913002534.

rs1491300253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 1:74660614 (GRCh38)
1:75126299 (GRCh37)
Canonical SPDI:: NC_000001.11:74660614:AG:AGAG
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000001.11:g.74660615_74660616dup, NC_000001.10:g.75126299_75126300dup

Select item 14912849925.

rs1491284992 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:74659324 (GRCh38)
1:75125008 (GRCh37)
Canonical SPDI:: NC_000001.11:74659323:AT:
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000759/9 (ALFA)
-=0.001077/285 (TOPMED)
-=0.001093/7 (1000Genomes)
-=0.001792/141 (GnomAD)
HGVS:: NC_000001.11:g.74659324_74659325del, NC_000001.10:g.75125008_75125009del

Select item 14912131476.

rs1491213147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:74652547 (GRCh38)
1:75118232 (GRCh37)
Canonical SPDI:: NC_000001.11:74652547:TTT:TTTCTTT
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.000004/1 (TOPMED)
TTTC=0.000022/2 (GnomAD)
HGVS:: NC_000001.11:g.74652550_74652551insCTTT, NC_000001.10:g.75118234_75118235insCTTT

Select item 14911967987.

rs1491196798 has merged into rs5775255 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:74666786 (GRCh38)
1:75132470 (GRCh37)
Canonical SPDI:: NC_000001.11:74666778:AAAAAAAAA:AAAAAAA,NC_000001.11:74666778:AAAAAAAAA:AAAAAAAA,NC_000001.11:74666778:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:74666778:AAAAAAAAA:AAAAAAAAAAA
Gene:: ERICH3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.02662/284 (ALFA)
-=0.09043/308 (1000Genomes)
A=0.225/9 (GENOME_DK)
-=0.28302/60 (Vietnamese)
-=0.31715/5315 (TOMMO)
HGVS:: NC_000001.11:g.74666786_74666787del, NC_000001.11:g.74666787del, NC_000001.11:g.74666787dup, NC_000001.11:g.74666786_74666787dup, NC_000001.10:g.75132470_75132471del, NC_000001.10:g.75132471del, NC_000001.10:g.75132471dup, NC_000001.10:g.75132470_75132471dup

Select item 14910395278.

rs1491039527 has merged into rs564728508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:74614689 (GRCh38)
1:75080373 (GRCh37)
Canonical SPDI:: NC_000001.11:74614675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74614675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74614675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:74614675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74614675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:74614675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74614689_74614692del, NC_000001.11:g.74614690_74614692del, NC_000001.11:g.74614691_74614692del, NC_000001.11:g.74614692del, NC_000001.11:g.74614692dup, NC_000001.11:g.74614691_74614692dup, NC_000001.10:g.75080373_75080376del, NC_000001.10:g.75080374_75080376del, NC_000001.10:g.75080375_75080376del, NC_000001.10:g.75080376del, NC_000001.10:g.75080376dup, NC_000001.10:g.75080375_75080376dup

Select item 14909751349.

rs1490975134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:74585590 (GRCh38)
1:75051274 (GRCh37)
Canonical SPDI:: NC_000001.11:74585589:C:T
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74585590C>T, NC_000001.10:g.75051274C>T

Select item 149096281510.

rs1490962815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:74600810 (GRCh38)
1:75066494 (GRCh37)
Canonical SPDI:: NC_000001.11:74600809:C:A,NC_000001.11:74600809:C:T
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74600810C>A, NC_000001.11:g.74600810C>T, NC_000001.10:g.75066494C>A, NC_000001.10:g.75066494C>T

Select item 149086158211.

rs1490861582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:74616519 (GRCh38)
1:75082203 (GRCh37)
Canonical SPDI:: NC_000001.11:74616518:A:G
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.74616519A>G, NC_000001.10:g.75082203A>G

Select item 149085526812.

rs1490855268 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:74586469 (GRCh38)
1:75052153 (GRCh37)
Canonical SPDI:: NC_000001.11:74586467:AGA:A
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74586469_74586470del, NC_000001.10:g.75052153_75052154del

Select item 149083647113.

rs1490836471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:74608565 (GRCh38)
1:75074249 (GRCh37)
Canonical SPDI:: NC_000001.11:74608564:G:T
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.74608565G>T, NC_000001.10:g.75074249G>T

Select item 149080696914.

rs1490806969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:74623598 (GRCh38)
1:75089282 (GRCh37)
Canonical SPDI:: NC_000001.11:74623597:T:G
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74623598T>G, NC_000001.10:g.75089282T>G, NR_121670.1:n.2467T>G, NR_121671.1:n.2374T>G

Select item 149074142715.

rs1490741427 [Homo sapiens]

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

Select item 149072556816.

rs1490725568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:74671563 (GRCh38)
1:75137247 (GRCh37)
Canonical SPDI:: NC_000001.11:74671562:A:G
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74671563A>G, NC_000001.10:g.75137247A>G

Select item 149071916617.

rs1490719166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:74626427 (GRCh38)
1:75092111 (GRCh37)
Canonical SPDI:: NC_000001.11:74626426:A:C
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.74626427A>C, NC_000001.10:g.75092111A>C

Select item 149071719818.

rs1490717198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74571728 (GRCh38)
1:75037412 (GRCh37)
Canonical SPDI:: NC_000001.11:74571727:T:C
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.74571728T>C, NC_000001.10:g.75037412T>C, NM_001002912.5:c.3982A>G, NM_001002912.4:c.3982A>G, XM_017000279.3:c.1756A>G, XM_017000279.2:c.1756A>G, XM_017000279.1:c.1756A>G, XM_017000283.3:c.1756A>G, XM_017000283.2:c.1756A>G, XM_017000283.1:c.1756A>G, XM_017000280.3:c.1756A>G, XM_017000280.2:c.1756A>G, XM_017000280.1:c.1756A>G, XM_017000285.3:c.1756A>G, XM_017000285.2:c.1756A>G, XM_017000285.1:c.1756A>G, XM_017000275.2:c.3976A>G, XM_017000275.1:c.3976A>G, XM_017000278.2:c.1756A>G, XM_017000278.1:c.1756A>G, XM_017000282.2:c.1756A>G, XM_017000282.1:c.1756A>G, XM_017000276.2:c.1936A>G, XM_017000276.1:c.1936A>G, XM_017000277.2:c.1894A>G, XM_017000277.1:c.1894A>G, XM_047445349.1:c.1756A>G, NP_001002912.4:p.Lys1328Glu, XP_016855768.1:p.Lys586Glu, XP_016855772.1:p.Lys586Glu, XP_016855769.1:p.Lys586Glu, XP_016855774.1:p.Lys586Glu, XP_016855764.1:p.Lys1326Glu, XP_016855767.1:p.Lys586Glu, XP_016855771.1:p.Lys586Glu, XP_016855765.1:p.Lys646Glu, XP_016855766.1:p.Lys632Glu, XP_047301305.1:p.Lys586Glu

Select item 149069781919.

rs1490697819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:74658373 (GRCh38)
1:75124057 (GRCh37)
Canonical SPDI:: NC_000001.11:74658372:G:A
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74658373G>A, NC_000001.10:g.75124057G>A

Select item 149068071720.

rs1490680717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:74643736 (GRCh38)
1:75109420 (GRCh37)
Canonical SPDI:: NC_000001.11:74643735:A:C,NC_000001.11:74643735:A:G
Gene:: ERICH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74643736A>C, NC_000001.11:g.74643736A>G, NC_000001.10:g.75109420A>C, NC_000001.10:g.75109420A>G

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