SNP Links for Gene (Select 11160) - SNP

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Select item 14914737651.

rs1491473765 has merged into rs1406473660 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 8:37740607 (GRCh38)
8:37598125 (GRCh37)
Canonical SPDI:: NC_000008.11:37740593:ATATATATATATATA:ATATATATATATA,NC_000008.11:37740593:ATATATATATATATA:ATATATATATATATATA
Gene:: ERLIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0.00081/15 (ALFA)
AT=0.0005/8 (TOMMO)
HGVS:: NC_000008.11:g.37740595TA[6], NC_000008.11:g.37740595TA[8], NC_000008.10:g.37598113TA[6], NC_000008.10:g.37598113TA[8], NG_032059.1:g.9017TA[6], NG_032059.1:g.9017TA[8]

Select item 14914268742.

rs1491426874 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:37740593 (GRCh38)
8:37598111 (GRCh37)
Canonical SPDI:: NC_000008.11:37740592:AA:
Gene:: ERLIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37740593_37740594del, NC_000008.10:g.37598111_37598112del, NG_032059.1:g.9015_9016del

Select item 14912497743.

rs1491249774 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:37746120 (GRCh38)
8:37603638 (GRCh37)
Canonical SPDI:: NC_000008.11:37746119:CA:
Gene:: ERLIN2 (Varview), LOC728024 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.37746120_37746121del, NC_000008.10:g.37603638_37603639del, NG_032059.1:g.14542_14543del, NM_001003790.4:c.*517_*518del, NM_001003790.3:c.*517_*518del, NM_001003791.3:c.*517_*518del, NM_001003791.2:c.*517_*518del, NM_001362880.2:c.*517_*518del, NM_001362880.1:c.*517_*518del

Select item 14911414344.

rs1491141434 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:37746120 (GRCh38)
8:37603639 (GRCh37)
Canonical SPDI:: NC_000008.11:37746120:A:AA
Gene:: ERLIN2 (Varview), LOC728024 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000008.11:g.37746121dup, NC_000008.10:g.37603639dup, NG_032059.1:g.14543dup, NM_001003790.4:c.*518dup, NM_001003790.3:c.*518dup, NM_001003791.3:c.*518dup, NM_001003791.2:c.*518dup, NM_001362880.2:c.*518dup, NM_001362880.1:c.*518dup

Select item 14908412845.

rs1490841284 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGG>- [Show Flanks]
Chromosome:: 8:37755062 (GRCh38)
8:37612580 (GRCh37)
Canonical SPDI:: NC_000008.11:37755060:GGAGG:G
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37755062_37755065del, NC_000008.10:g.37612580_37612583del, NG_032059.1:g.23484_23487del, NM_007175.8:c.*947_*950del, NM_007175.7:c.*947_*950del, NM_007175.6:c.*947_*950del, NM_001362878.2:c.*947_*950del, NM_001362878.1:c.*947_*950del, XM_047421307.1:c.*947_*950del, XM_047421308.1:c.*947_*950del

Select item 14908192046.

rs1490819204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:37744957 (GRCh38)
8:37602475 (GRCh37)
Canonical SPDI:: NC_000008.11:37744956:G:C
Gene:: ERLIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.37744957G>C, NC_000008.10:g.37602475G>C, NG_032059.1:g.13379G>C

Select item 14907355507.

rs1490735550 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACATGGA>- [Show Flanks]
Chromosome:: 8:37742618 (GRCh38)
8:37600136 (GRCh37)
Canonical SPDI:: NC_000008.11:37742608:ACACATGGACACATGGA:ACACATGGA
Gene:: ERLIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACATGGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37742610CACATGGA[1], NC_000008.10:g.37600128CACATGGA[1], NG_032059.1:g.11032CACATGGA[1]

Select item 14903715768.

rs1490371576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:37745526 (GRCh38)
8:37603044 (GRCh37)
Canonical SPDI:: NC_000008.11:37745525:T:G
Gene:: ERLIN2 (Varview)
Functional Consequence:: intron_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_000008.11:g.37745526T>G, NC_000008.10:g.37603044T>G, NG_032059.1:g.13948T>G

Select item 14903432539.

rs1490343253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:37745666 (GRCh38)
8:37603184 (GRCh37)
Canonical SPDI:: NC_000008.11:37745665:A:G
Gene:: ERLIN2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.37745666A>G, NC_000008.10:g.37603184A>G, NG_032059.1:g.14088A>G, NM_001003790.4:c.*63A>G, NM_001003790.3:c.*63A>G, NM_001003791.3:c.*63A>G, NM_001003791.2:c.*63A>G, NM_001362880.2:c.*63A>G, NM_001362880.1:c.*63A>G

Select item 148971260010.

rs1489712600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:37753457 (GRCh38)
8:37610975 (GRCh37)
Canonical SPDI:: NC_000008.11:37753456:A:G
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000008.11:g.37753457A>G, NC_000008.10:g.37610975A>G, NG_032059.1:g.21879A>G, NM_007175.8:c.747A>G, NM_007175.7:c.747A>G, NM_007175.6:c.747A>G, NM_001362878.2:c.747A>G, NM_001362878.1:c.747A>G, XM_047421307.1:c.747A>G, XM_047421308.1:c.501A>G

Select item 148967148511.

rs1489671485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:37751822 (GRCh38)
8:37609340 (GRCh37)
Canonical SPDI:: NC_000008.11:37751821:T:A,NC_000008.11:37751821:T:C
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.37751822T>A, NC_000008.11:g.37751822T>C, NC_000008.10:g.37609340T>A, NC_000008.10:g.37609340T>C, NG_032059.1:g.20244T>A, NG_032059.1:g.20244T>C

Select item 148954059612.

rs1489540596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:37739795 (GRCh38)
8:37597313 (GRCh37)
Canonical SPDI:: NC_000008.11:37739794:G:T
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.37739795G>T, NC_000008.10:g.37597313G>T, NG_032059.1:g.8217G>T

Select item 148952953713.

rs1489529537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:37756750 (GRCh38)
8:37614268 (GRCh37)
Canonical SPDI:: NC_000008.11:37756749:T:C
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.37756750T>C, NC_000008.10:g.37614268T>C, NG_032059.1:g.25172T>C, NM_007175.8:c.*2635T>C, NM_007175.7:c.*2635T>C, NM_007175.6:c.*2635T>C, NM_001362878.2:c.*2635T>C, NM_001362878.1:c.*2635T>C, XM_047421307.1:c.*2635T>C, XM_047421308.1:c.*2635T>C

Select item 148950513014.

rs1489505130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:37736176 (GRCh38)
8:37593694 (GRCh37)
Canonical SPDI:: NC_000008.11:37736175:G:A
Gene:: ERLIN2 (Varview), LOC102723701 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.37736176G>A, NC_000008.10:g.37593694G>A, NG_032059.1:g.4598G>A, NR_125821.1:n.671C>T

Select item 148926319915.

rs1489263199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:37739576 (GRCh38)
8:37597094 (GRCh37)
Canonical SPDI:: NC_000008.11:37739575:A:G
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37739576A>G, NC_000008.10:g.37597094A>G, NG_032059.1:g.7998A>G

Select item 148899931916.

rs1488999319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:37736427 (GRCh38)
8:37593945 (GRCh37)
Canonical SPDI:: NC_000008.11:37736426:A:C
Gene:: ERLIN2 (Varview), LOC102723701 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000283/5 (TOMMO)
C=0.000343/1 (KOREAN)
HGVS:: NC_000008.11:g.37736427A>C, NC_000008.10:g.37593945A>C, NG_032059.1:g.4849A>C, NR_125821.1:n.420T>G

Select item 148887587517.

rs1488875875 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:37757716 (GRCh38)
8:37615234 (GRCh37)
Canonical SPDI:: NC_000008.11:37757715:A:G
Gene:: ERLIN2 (Varview), LOC124901934 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_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_000008.11:g.37757716A>G, NC_000008.10:g.37615234A>G, NG_032059.1:g.26138A>G, NM_007175.8:c.*3601A>G, NM_007175.7:c.*3601A>G, NM_007175.6:c.*3601A>G, NM_001362878.2:c.*3601A>G, NM_001362878.1:c.*3601A>G, NG_053030.1:g.964A>G, XM_047421307.1:c.*3601A>G, XR_007060889.1:n.5436T>C, XM_047421308.1:c.*3601A>G

Select item 148852534918.

rs1488525349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:37748746 (GRCh38)
8:37606264 (GRCh37)
Canonical SPDI:: NC_000008.11:37748745:T:A
Gene:: ERLIN2 (Varview), LOC728024 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.37748746T>A, NC_000008.10:g.37606264T>A, NG_032059.1:g.17168T>A

Select item 148839457819.

rs1488394578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:37739870 (GRCh38)
8:37597388 (GRCh37)
Canonical SPDI:: NC_000008.11:37739869:A:G
Gene:: ERLIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.37739870A>G, NC_000008.10:g.37597388A>G, NG_032059.1:g.8292A>G

Select item 148839040020.

rs1488390400 has merged into rs567836974 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 8:37739018 (GRCh38)
8:37596536 (GRCh37)
Canonical SPDI:: NC_000008.11:37739017:TTTTTTTTTT:TTTTTTTTT,NC_000008.11:37739017:TTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:37739017:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: ERLIN2 (Varview), LOC102723701 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000068/18 (TOPMED)
-=0.000106/2 (TOMMO)
-=0.002183/4 (Korea1K)
HGVS:: NC_000008.11:g.37739027del, NC_000008.11:g.37739027dup, NC_000008.11:g.37739026_37739027dup, NC_000008.10:g.37596545del, NC_000008.10:g.37596545dup, NC_000008.10:g.37596544_37596545dup, NG_032059.1:g.7449del, NG_032059.1:g.7449dup, NG_032059.1:g.7448_7449dup

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