SNP Links for Gene (Select 645843) - SNP

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Select item 14915313841.

rs1491531384 has merged into rs111644138 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:152342568 (GRCh38)
3:152060357 (GRCh37)
Canonical SPDI:: NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:152342553:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000003.12:g.152342554AC[7], NC_000003.12:g.152342554AC[8], NC_000003.12:g.152342554AC[9], NC_000003.12:g.152342554AC[10], NC_000003.12:g.152342554AC[11], NC_000003.12:g.152342554AC[12], NC_000003.12:g.152342554AC[13], NC_000003.12:g.152342554AC[14], NC_000003.12:g.152342554AC[15], NC_000003.12:g.152342554AC[16], NC_000003.12:g.152342554AC[18], NC_000003.12:g.152342554AC[19], NC_000003.12:g.152342554AC[20], NC_000003.12:g.152342554AC[21], NC_000003.12:g.152342554AC[22], NC_000003.12:g.152342554AC[23], NC_000003.12:g.152342554AC[24], NC_000003.12:g.152342554AC[25], NC_000003.12:g.152342554AC[26], NC_000003.12:g.152342554AC[27], NC_000003.12:g.152342554AC[28], NC_000003.12:g.152342554AC[29], NC_000003.12:g.152342554AC[30], NC_000003.12:g.152342554AC[31], NC_000003.11:g.152060343AC[7], NC_000003.11:g.152060343AC[8], NC_000003.11:g.152060343AC[9], NC_000003.11:g.152060343AC[10], NC_000003.11:g.152060343AC[11], NC_000003.11:g.152060343AC[12], NC_000003.11:g.152060343AC[13], NC_000003.11:g.152060343AC[14], NC_000003.11:g.152060343AC[15], NC_000003.11:g.152060343AC[16], NC_000003.11:g.152060343AC[18], NC_000003.11:g.152060343AC[19], NC_000003.11:g.152060343AC[20], NC_000003.11:g.152060343AC[21], NC_000003.11:g.152060343AC[22], NC_000003.11:g.152060343AC[23], NC_000003.11:g.152060343AC[24], NC_000003.11:g.152060343AC[25], NC_000003.11:g.152060343AC[26], NC_000003.11:g.152060343AC[27], NC_000003.11:g.152060343AC[28], NC_000003.11:g.152060343AC[29], NC_000003.11:g.152060343AC[30], NC_000003.11:g.152060343AC[31], NG_047058.1:g.103234AC[7], NG_047058.1:g.103234AC[8], NG_047058.1:g.103234AC[9], NG_047058.1:g.103234AC[10], NG_047058.1:g.103234AC[11], NG_047058.1:g.103234AC[12], NG_047058.1:g.103234AC[13], NG_047058.1:g.103234AC[14], NG_047058.1:g.103234AC[15], NG_047058.1:g.103234AC[16], NG_047058.1:g.103234AC[18], NG_047058.1:g.103234AC[19], NG_047058.1:g.103234AC[20], NG_047058.1:g.103234AC[21], NG_047058.1:g.103234AC[22], NG_047058.1:g.103234AC[23], NG_047058.1:g.103234AC[24], NG_047058.1:g.103234AC[25], NG_047058.1:g.103234AC[26], NG_047058.1:g.103234AC[27], NG_047058.1:g.103234AC[28], NG_047058.1:g.103234AC[29], NG_047058.1:g.103234AC[30], NG_047058.1:g.103234AC[31]

Select item 14914585882.

rs1491458588 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:152339486 (GRCh38)
3:152057276 (GRCh37)
Canonical SPDI:: NC_000003.12:152339486:CCCCC:CCCCCC
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0.000071/1 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.152339491dup, NC_000003.11:g.152057280dup, NG_047058.1:g.100171dup

Select item 14913824573.

rs1491382457 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 3:152342554 (GRCh38)
3:152060344 (GRCh37)
Canonical SPDI:: NC_000003.12:152342554:C:CGC
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00012/1 (GnomAD)
HGVS:: NC_000003.12:g.152342555_152342556insGC, NC_000003.11:g.152060344_152060345insGC, NG_047058.1:g.103235_103236insGC

Select item 14907169744.

rs1490716974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:152342347 (GRCh38)
3:152060136 (GRCh37)
Canonical SPDI:: NC_000003.12:152342346:T:C
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.152342347T>C, NC_000003.11:g.152060136T>C, NG_047058.1:g.103027T>C

Select item 14893026585.

rs1489302658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:152340281 (GRCh38)
3:152058070 (GRCh37)
Canonical SPDI:: NC_000003.12:152340280:G:A
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000045/12 (TOPMED)
A=0.000955/16 (TOMMO)
A=0.002183/4 (Korea1K)
A=0.004107/12 (KOREAN)
HGVS:: NC_000003.12:g.152340281G>A, NC_000003.11:g.152058070G>A, NG_047058.1:g.100961G>A, NR_132656.1:n.710C>T, NM_001123228.1:c.*246C>T

Select item 14885855246.

rs1488585524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:152341615 (GRCh38)
3:152059404 (GRCh37)
Canonical SPDI:: NC_000003.12:152341614:A:G
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.152341615A>G, NC_000003.11:g.152059404A>G, NG_047058.1:g.102295A>G

Select item 14877523037.

rs1487752303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:152340599 (GRCh38)
3:152058388 (GRCh37)
Canonical SPDI:: NC_000003.12:152340598:T:C
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.152340599T>C, NC_000003.11:g.152058388T>C, NG_047058.1:g.101279T>C, NR_132656.1:n.392A>G, NM_001123228.1:c.306A>G

Select item 14876133388.

rs1487613338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:152341635 (GRCh38)
3:152059424 (GRCh37)
Canonical SPDI:: NC_000003.12:152341634:T:G
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.152341635T>G, NC_000003.11:g.152059424T>G, NG_047058.1:g.102315T>G

Select item 14875822009.

rs1487582200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:152342587 (GRCh38)
3:152060376 (GRCh37)
Canonical SPDI:: NC_000003.12:152342586:C:G,NC_000003.12:152342586:C:T
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.152342587C>G, NC_000003.12:g.152342587C>T, NC_000003.11:g.152060376C>G, NC_000003.11:g.152060376C>T, NG_047058.1:g.103267C>G, NG_047058.1:g.103267C>T

Select item 148682536610.

rs1486825366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:152339525 (GRCh38)
3:152057314 (GRCh37)
Canonical SPDI:: NC_000003.12:152339524:T:G
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.152339525T>G, NC_000003.11:g.152057314T>G, NG_047058.1:g.100205T>G

Select item 148672851811.

rs1486728518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:152339869 (GRCh38)
3:152057659 (GRCh37)
Canonical SPDI:: NC_000003.12:152339869:T:TT
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000003.12:g.152339870dup, NC_000003.11:g.152057659dup, NG_047058.1:g.100550dup, NR_132656.1:n.1121dup, NM_001123228.1:c.*657dup

Select item 148513763012.

rs1485137630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:152340932 (GRCh38)
3:152058721 (GRCh37)
Canonical SPDI:: NC_000003.12:152340931:G:A
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.152340932G>A, NC_000003.11:g.152058721G>A, NG_047058.1:g.101612G>A, NR_132656.1:n.59C>T, NM_001123228.1:c.-28C>T

Select item 148509533213.

rs1485095332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:152340312 (GRCh38)
3:152058101 (GRCh37)
Canonical SPDI:: NC_000003.12:152340311:A:G
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.152340312A>G, NC_000003.11:g.152058101A>G, NG_047058.1:g.100992A>G, NR_132656.1:n.679T>C, NM_001123228.1:c.*215T>C

Select item 148474070514.

rs1484740705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:152340938 (GRCh38)
3:152058727 (GRCh37)
Canonical SPDI:: NC_000003.12:152340937:G:A,NC_000003.12:152340937:G:T
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.152340938G>A, NC_000003.12:g.152340938G>T, NC_000003.11:g.152058727G>A, NC_000003.11:g.152058727G>T, NG_047058.1:g.101618G>A, NG_047058.1:g.101618G>T, NR_132656.1:n.53C>T, NR_132656.1:n.53C>A, NM_001123228.1:c.-34C>T, NM_001123228.1:c.-34C>A

Select item 148417036515.

rs1484170365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:152339441 (GRCh38)
3:152057230 (GRCh37)
Canonical SPDI:: NC_000003.12:152339440:G:A
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.152339441G>A, NC_000003.11:g.152057230G>A, NG_047058.1:g.100121G>A

Select item 148339524316.

rs1483395243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:152341896 (GRCh38)
3:152059685 (GRCh37)
Canonical SPDI:: NC_000003.12:152341895:G:C
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.152341896G>C, NC_000003.11:g.152059685G>C, NG_047058.1:g.102576G>C

Select item 148327168017.

rs1483271680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:152340406 (GRCh38)
3:152058195 (GRCh37)
Canonical SPDI:: NC_000003.12:152340405:A:G
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.152340406A>G, NC_000003.11:g.152058195A>G, NG_047058.1:g.101086A>G, NR_132656.1:n.585T>C, NM_001123228.1:c.*121T>C

Select item 148299577618.

rs1482995776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:152342600 (GRCh38)
3:152060389 (GRCh37)
Canonical SPDI:: NC_000003.12:152342599:A:G
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.152342600A>G, NC_000003.11:g.152060389A>G, NG_047058.1:g.103280A>G

Select item 148281076519.

rs1482810765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:152341755 (GRCh38)
3:152059544 (GRCh37)
Canonical SPDI:: NC_000003.12:152341754:A:C
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.152341755A>C, NC_000003.11:g.152059544A>C, NG_047058.1:g.102435A>C

Select item 148257006420.

rs1482570064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:152340291 (GRCh38)
3:152058080 (GRCh37)
Canonical SPDI:: NC_000003.12:152340290:T:C
Gene:: MBNL1 (Varview), TMEM14EP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.152340291T>C, NC_000003.11:g.152058080T>C, NG_047058.1:g.100971T>C, NR_132656.1:n.700A>G, NM_001123228.1:c.*236A>G

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