SNP Links for Gene (Select 618) - SNP

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Items: 1 to 20 of 783

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Select item 14903917691.

rs1490391769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:47335487 (GRCh38)
2:47562626 (GRCh37)
Canonical SPDI:: NC_000002.12:47335486:C:G
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47335487C>G, NC_000002.11:g.47562626C>G, NR_001568.1:n.173C>G

Select item 14901024562.

rs1490102456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:47335878 (GRCh38)
2:47563017 (GRCh37)
Canonical SPDI:: NC_000002.12:47335877:G:T
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.47335878G>T, NC_000002.11:g.47563017G>T

Select item 14900371533.

rs1490037153 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:47335445 (GRCh38)
2:47562585 (GRCh37)
Canonical SPDI:: NC_000002.12:47335445::T
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47335445_47335446insT, NC_000002.11:g.47562584_47562585insT, NR_001568.1:n.131_132insT

Select item 14899028954.

rs1489902895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47335635 (GRCh38)
2:47562774 (GRCh37)
Canonical SPDI:: NC_000002.12:47335634:T:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47335635T>C, NC_000002.11:g.47562774T>C

Select item 14890140885.

rs1489014088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47334087 (GRCh38)
2:47561226 (GRCh37)
Canonical SPDI:: NC_000002.12:47334086:G:A
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47334087G>A, NC_000002.11:g.47561226G>A

Select item 14886842986.

rs1488684298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:47333773 (GRCh38)
2:47560912 (GRCh37)
Canonical SPDI:: NC_000002.12:47333772:T:A
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47333773T>A, NC_000002.11:g.47560912T>A

Select item 14882228757.

rs1488222875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:47333669 (GRCh38)
2:47560808 (GRCh37)
Canonical SPDI:: NC_000002.12:47333668:G:A,NC_000002.12:47333668:G:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.47333669G>A, NC_000002.12:g.47333669G>C, NC_000002.11:g.47560808G>A, NC_000002.11:g.47560808G>C

Select item 14866328898.

rs1486632889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:47334969 (GRCh38)
2:47562108 (GRCh37)
Canonical SPDI:: NC_000002.12:47334968:A:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000002.12:g.47334969A>C, NC_000002.11:g.47562108A>C

Select item 14865280979.

rs1486528097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47336012 (GRCh38)
2:47563151 (GRCh37)
Canonical SPDI:: NC_000002.12:47336011:T:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.0185/54 (KOREAN)
HGVS:: NC_000002.12:g.47336012T>C, NC_000002.11:g.47563151T>C

Select item 148608847110.

rs1486088471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47335348 (GRCh38)
2:47562487 (GRCh37)
Canonical SPDI:: NC_000002.12:47335347:G:A
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47335348G>A, NC_000002.11:g.47562487G>A, NR_001568.1:n.34G>A

Select item 148543320211.

rs1485433202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47335724 (GRCh38)
2:47562863 (GRCh37)
Canonical SPDI:: NC_000002.12:47335723:G:A
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.47335724G>A, NC_000002.11:g.47562863G>A

Select item 148406583412.

rs1484065834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47335540 (GRCh38)
2:47562679 (GRCh37)
Canonical SPDI:: NC_000002.12:47335539:C:T
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.47335540C>T, NC_000002.11:g.47562679C>T

Select item 148200817613.

rs1482008176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47335843 (GRCh38)
2:47562982 (GRCh37)
Canonical SPDI:: NC_000002.12:47335842:T:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000253/3 (ALFA)
C=0.000099/13 (GnomAD)
C=0.000684/2 (KOREAN)
C=0.000733/12 (TOMMO)
HGVS:: NC_000002.12:g.47335843T>C, NC_000002.11:g.47562982T>C

Select item 148187568414.

rs1481875684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47335177 (GRCh38)
2:47562316 (GRCh37)
Canonical SPDI:: NC_000002.12:47335176:T:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.47335177T>C, NC_000002.11:g.47562316T>C

Select item 148110776015.

rs1481107760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47333893 (GRCh38)
2:47561032 (GRCh37)
Canonical SPDI:: NC_000002.12:47333892:G:A
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.47333893G>A, NC_000002.11:g.47561032G>A

Select item 148069704116.

rs1480697041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:47334962 (GRCh38)
2:47562101 (GRCh37)
Canonical SPDI:: NC_000002.12:47334961:G:C
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.47334962G>C, NC_000002.11:g.47562101G>C

Select item 147949136817.

rs1479491368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47335718 (GRCh38)
2:47562857 (GRCh37)
Canonical SPDI:: NC_000002.12:47335717:C:T
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.47335718C>T, NC_000002.11:g.47562857C>T

Select item 147936182318.

rs1479361823 has merged into rs550529109 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:47335846 (GRCh38)
2:47562985 (GRCh37)
Canonical SPDI:: NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.4868/2438 (1000Genomes)
HGVS:: NC_000002.12:g.47335846_47335859del, NC_000002.12:g.47335847_47335859del, NC_000002.12:g.47335848_47335859del, NC_000002.12:g.47335849_47335859del, NC_000002.12:g.47335850_47335859del, NC_000002.12:g.47335851_47335859del, NC_000002.12:g.47335852_47335859del, NC_000002.12:g.47335853_47335859del, NC_000002.12:g.47335855_47335859del, NC_000002.12:g.47335856_47335859del, NC_000002.12:g.47335857_47335859del, NC_000002.12:g.47335858_47335859del, NC_000002.12:g.47335859del, NC_000002.12:g.47335859dup, NC_000002.12:g.47335858_47335859dup, NC_000002.12:g.47335857_47335859dup, NC_000002.12:g.47335856_47335859dup, NC_000002.12:g.47335855_47335859dup, NC_000002.12:g.47335854_47335859dup, NC_000002.12:g.47335853_47335859dup, NC_000002.12:g.47335852_47335859dup, NC_000002.12:g.47335851_47335859dup, NC_000002.12:g.47335850_47335859dup, NC_000002.12:g.47335849_47335859dup, NC_000002.12:g.47335848_47335859dup, NC_000002.12:g.47335847_47335859dup, NC_000002.12:g.47335846_47335859dup, NC_000002.12:g.47335842_47335859dup, NC_000002.12:g.47335859_47335860insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47562985_47562998del, NC_000002.11:g.47562986_47562998del, NC_000002.11:g.47562987_47562998del, NC_000002.11:g.47562988_47562998del, NC_000002.11:g.47562989_47562998del, NC_000002.11:g.47562990_47562998del, NC_000002.11:g.47562991_47562998del, NC_000002.11:g.47562992_47562998del, NC_000002.11:g.47562994_47562998del, NC_000002.11:g.47562995_47562998del, NC_000002.11:g.47562996_47562998del, NC_000002.11:g.47562997_47562998del, NC_000002.11:g.47562998del, NC_000002.11:g.47562998dup, NC_000002.11:g.47562997_47562998dup, NC_000002.11:g.47562996_47562998dup, NC_000002.11:g.47562995_47562998dup, NC_000002.11:g.47562994_47562998dup, NC_000002.11:g.47562993_47562998dup, NC_000002.11:g.47562992_47562998dup, NC_000002.11:g.47562991_47562998dup, NC_000002.11:g.47562990_47562998dup, NC_000002.11:g.47562989_47562998dup, NC_000002.11:g.47562988_47562998dup, NC_000002.11:g.47562987_47562998dup, NC_000002.11:g.47562986_47562998dup, NC_000002.11:g.47562985_47562998dup, NC_000002.11:g.47562981_47562998dup, NC_000002.11:g.47562998_47562999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 147873937619.

rs1478739376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:47334156 (GRCh38)
2:47561295 (GRCh37)
Canonical SPDI:: NC_000002.12:47334155:G:T
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.47334156G>T, NC_000002.11:g.47561295G>T

Select item 147841016720.

rs1478410167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47333857 (GRCh38)
2:47560996 (GRCh37)
Canonical SPDI:: NC_000002.12:47333856:A:G
Gene:: BCYRN1 (Varview), EPCAM-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.47333857A>G, NC_000002.11:g.47560996A>G

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