SNP Links for Gene (Select 285141) - SNP

Links from Gene

Items: 1 to 20 of 6439

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Select item 14915847701.

rs1491584770 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:170796425 (GRCh38)
2:171652936 (GRCh37)
Canonical SPDI:: NC_000002.12:170796425::G
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.06997/830 (ALFA)
G=0.0001/2 (GnomAD)
HGVS:: NC_000002.12:g.170796425_170796426insG, NC_000002.11:g.171652935_171652936insG

Select item 14915611192.

rs1491561119 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:170794101 (GRCh38)
2:171650611 (GRCh37)
Canonical SPDI:: NC_000002.12:170794099:TCT:T
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.170794101_170794102del, NC_000002.11:g.171650611_171650612del

Select item 14913060343.

rs1491306034 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:170780648 (GRCh38)
2:171637159 (GRCh37)
Canonical SPDI:: NC_000002.12:170780648:TTTTTTT:TTTTTTTT
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.170780655dup, NC_000002.11:g.171637165dup

Select item 14912291074.

rs1491229107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:170794100 (GRCh38)
2:171650611 (GRCh37)
Canonical SPDI:: NC_000002.12:170794100:C:CC
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.170794101dup, NC_000002.11:g.171650611dup

Select item 14911585765.

rs1491158576 has merged into rs79722006 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:170774577 (GRCh38)
2:171631087 (GRCh37)
Canonical SPDI:: NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1916/343 (Korea1K)
HGVS:: NC_000002.12:g.170774577_170774583del, NC_000002.12:g.170774579_170774583del, NC_000002.12:g.170774580_170774583del, NC_000002.12:g.170774581_170774583del, NC_000002.12:g.170774582_170774583del, NC_000002.12:g.170774583del, NC_000002.12:g.170774583dup, NC_000002.12:g.170774582_170774583dup, NC_000002.12:g.170774581_170774583dup, NC_000002.12:g.170774572_170774583dup, NC_000002.12:g.170774571_170774583dup, NC_000002.11:g.171631087_171631093del, NC_000002.11:g.171631089_171631093del, NC_000002.11:g.171631090_171631093del, NC_000002.11:g.171631091_171631093del, NC_000002.11:g.171631092_171631093del, NC_000002.11:g.171631093del, NC_000002.11:g.171631093dup, NC_000002.11:g.171631092_171631093dup, NC_000002.11:g.171631091_171631093dup, NC_000002.11:g.171631082_171631093dup, NC_000002.11:g.171631081_171631093dup

Select item 14911218986.

rs1491121898 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:170780648 (GRCh38)
2:171637158 (GRCh37)
Canonical SPDI:: NC_000002.12:170780647:AT:
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.170780648_170780649del, NC_000002.11:g.171637158_171637159del

Select item 14910962607.

rs1491096260 has merged into rs869036308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 2:170796426 (GRCh38)
2:171652936 (GRCh37)
Canonical SPDI:: NC_000002.12:170796424:TTT:T,NC_000002.12:170796424:TTT:TT
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00025/3 (GnomAD)
HGVS:: NC_000002.12:g.170796426_170796427del, NC_000002.12:g.170796427del, NC_000002.11:g.171652936_171652937del, NC_000002.11:g.171652937del

Select item 14910840518.

rs1491084051 [Homo sapiens]

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

Select item 14908301199.

rs1490830119 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAAA>- [Show Flanks]
Chromosome:: 2:170790978 (GRCh38)
2:171647488 (GRCh37)
Canonical SPDI:: NC_000002.12:170790969:AAAATAAAATAAA:AAAATAAA
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAATAAA=0.000071/1 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000091/24 (TOPMED)
HGVS:: NC_000002.12:g.170790973ATAAA[1], NC_000002.11:g.171647483ATAAA[1]

Select item 149068142810.

rs1490681428 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTCT>- [Show Flanks]
Chromosome:: 2:170789757 (GRCh38)
2:171646267 (GRCh37)
Canonical SPDI:: NC_000002.12:170789750:TTTTCTTTTTCT:TTTTCT
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.170789751TTTTCT[1], NC_000002.11:g.171646261TTTTCT[1]

Select item 149063981111.

rs1490639811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:170781003 (GRCh38)
2:171637513 (GRCh37)
Canonical SPDI:: NC_000002.12:170781002:A:G
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.170781003A>G, NC_000002.11:g.171637513A>G

Select item 149060679012.

rs1490606790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:170781994 (GRCh38)
2:171638504 (GRCh37)
Canonical SPDI:: NC_000002.12:170781993:C:G
Gene:: ERICH2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_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_000002.12:g.170781994C>G, NC_000002.11:g.171638504C>G

Select item 149054070513.

rs1490540705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:170799176 (GRCh38)
2:171655686 (GRCh37)
Canonical SPDI:: NC_000002.12:170799175:A:G
Gene:: ERICH2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.170799176A>G, NC_000002.11:g.171655686A>G

Select item 149043065214.

rs1490430652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:170768955 (GRCh38)
2:171625465 (GRCh37)
Canonical SPDI:: NC_000002.12:170768954:C:G
Gene:: ERICH2 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.170768955C>G, NC_000002.11:g.171625465C>G

Select item 149035267115.

rs1490352671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:170774562 (GRCh38)
2:171631072 (GRCh37)
Canonical SPDI:: NC_000002.12:170774561:A:T
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000032/2 (GnomAD)
T=0.017454/51 (KOREAN)
HGVS:: NC_000002.12:g.170774562A>T, NC_000002.11:g.171631072A>T

Select item 149033696316.

rs1490336963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:170774467 (GRCh38)
2:171630977 (GRCh37)
Canonical SPDI:: NC_000002.12:170774466:A:G
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000002.12:g.170774467A>G, NC_000002.11:g.171630977A>G

Select item 149009983817.

rs1490099838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:170783734 (GRCh38)
2:171640244 (GRCh37)
Canonical SPDI:: NC_000002.12:170783733:C:G,NC_000002.12:170783733:C:T
Gene:: ERICH2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00109/2 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.170783734C>G, NC_000002.12:g.170783734C>T, NC_000002.11:g.171640244C>G, NC_000002.11:g.171640244C>T

Select item 148991686018.

rs1489916860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAGAGGTGGTGTATGT [Show Flanks]
Chromosome:: 2:170773863 (GRCh38)
2:171630374 (GRCh37)
Canonical SPDI:: NC_000002.12:170773863:T:TCAAGAGGTGGTGTATGT
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCAAGAGGTGGTGTATGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.170773864_170773865insCAAGAGGTGGTGTATGT, NC_000002.11:g.171630374_171630375insCAAGAGGTGGTGTATGT

Select item 148991138319.

rs1489911383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:170793211 (GRCh38)
2:171649721 (GRCh37)
Canonical SPDI:: NC_000002.12:170793210:T:G
Gene:: ERICH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.170793211T>G, NC_000002.11:g.171649721T>G

Select item 148984649020.

rs1489846490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:170774819 (GRCh38)
2:171631329 (GRCh37)
Canonical SPDI:: NC_000002.12:170774818:C:T
Gene:: ERICH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.170774819C>T, NC_000002.11:g.171631329C>T

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