SNP Links for Nucleotide (Select 261278374) - SNP

Links from Nucleotide

Items: 1 to 20 of 292

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Select item 14892821781.

rs1489282178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:25320082 (GRCh38)
22:25716049 (GRCh37)
Canonical SPDI:: NC_000022.11:25320081:C:G
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25320082C>G, NC_000022.10:g.25716049C>G, NM_001013618.1:c.671C>G, NR_029395.1:n.531C>G

Select item 14878890162.

rs1487889016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:25319093 (GRCh38)
22:25715060 (GRCh37)
Canonical SPDI:: NC_000022.11:25319092:C:T
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25319093C>T, NC_000022.10:g.25715060C>T, NR_029395.1:n.171C>T

Select item 14831496173.

rs1483149617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:25320027 (GRCh38)
22:25715994 (GRCh37)
Canonical SPDI:: NC_000022.11:25320026:C:A,NC_000022.11:25320026:C:G,NC_000022.11:25320026:C:T
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000684/2 (KOREAN)
HGVS:: NC_000022.11:g.25320027C>A, NC_000022.11:g.25320027C>G, NC_000022.11:g.25320027C>T, NC_000022.10:g.25715994C>A, NC_000022.10:g.25715994C>G, NC_000022.10:g.25715994C>T, NM_001013618.1:c.616C>A, NM_001013618.1:c.616C>G, NM_001013618.1:c.616C>T, NR_029395.1:n.476C>A, NR_029395.1:n.476C>G, NR_029395.1:n.476C>T

Select item 14686005634.

rs1468600563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25319071 (GRCh38)
22:25715038 (GRCh37)
Canonical SPDI:: NC_000022.11:25319070:G:A
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25319071G>A, NC_000022.10:g.25715038G>A, NR_029395.1:n.149G>A

Select item 14606274245.

rs1460627424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:25319898 (GRCh38)
22:25715865 (GRCh37)
Canonical SPDI:: NC_000022.11:25319897:G:T
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.25319898G>T, NC_000022.10:g.25715865G>T, NM_001013618.1:c.487G>T, NR_029395.1:n.347G>T

Select item 14601015826.

rs1460101582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:25318348 (GRCh38)
22:25714315 (GRCh37)
Canonical SPDI:: NC_000022.11:25318347:G:A,NC_000022.11:25318347:G:C
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.25318348G>A, NC_000022.11:g.25318348G>C, NC_000022.10:g.25714315G>A, NC_000022.10:g.25714315G>C, NM_001013618.1:c.328G>A, NM_001013618.1:c.328G>C, NR_029395.1:n.92G>A, NR_029395.1:n.92G>C

Select item 14587671467.

rs1458767146 has merged into rs752171820 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTGGCCCCGGG>-,TGCTGGCCCCGGGTGCTGGCCCCGGG [Show Flanks]
Chromosome:: 22:25318297 (GRCh38)
22:25714264 (GRCh37)
Canonical SPDI:: NC_000022.11:25318285:CTGGCCCCGGGTGCTGGCCCCGGG:CTGGCCCCGGG,NC_000022.11:25318285:CTGGCCCCGGGTGCTGGCCCCGGG:CTGGCCCCGGGTGCTGGCCCCGGGTGCTGGCCCCGGG
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGGCCCCGGG=0.000043/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000025/3 (ExAC)
-=0.00006/16 (TOPMED)
HGVS:: NC_000022.11:g.25318297_25318309del, NC_000022.11:g.25318297_25318309dup, NC_000022.10:g.25714264_25714276del, NC_000022.10:g.25714264_25714276dup, NM_001013618.1:c.277_289del, NM_001013618.1:c.277_289dup, NR_029395.1:n.41_53del, NR_029395.1:n.41_53dup

Select item 14565684288.

rs1456568428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:25320033 (GRCh38)
22:25716000 (GRCh37)
Canonical SPDI:: NC_000022.11:25320032:A:G
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.25320033A>G, NC_000022.10:g.25716000A>G, NM_001013618.1:c.622A>G, NR_029395.1:n.482A>G

Select item 14548289579.

rs1454828957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:25319800 (GRCh38)
22:25715767 (GRCh37)
Canonical SPDI:: NC_000022.11:25319799:T:C
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.25319800T>C, NC_000022.10:g.25715767T>C, NM_001013618.1:c.389T>C, NR_029395.1:n.249T>C

Select item 145058163610.

rs1450581636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25318333 (GRCh38)
22:25714300 (GRCh37)
Canonical SPDI:: NC_000022.11:25318332:G:A
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.25318333G>A, NC_000022.10:g.25714300G>A, NM_001013618.1:c.313G>A, NR_029395.1:n.77G>A

Select item 144540154011.

rs1445401540 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 22:25319782 (GRCh38)
22:25715749 (GRCh37)
Canonical SPDI:: NC_000022.11:25319781:CCCCC:CCCC,NC_000022.11:25319781:CCCCC:CCCCCC
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.25319786del, NC_000022.11:g.25319786dup, NC_000022.10:g.25715753del, NC_000022.10:g.25715753dup, NM_001013618.1:c.375del, NM_001013618.1:c.375dup, NR_029395.1:n.235del, NR_029395.1:n.235dup

Select item 143781709912.

rs1437817099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:25319907 (GRCh38)
22:25715874 (GRCh37)
Canonical SPDI:: NC_000022.11:25319906:C:T
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.25319907C>T, NC_000022.10:g.25715874C>T, NM_001013618.1:c.496C>T, NR_029395.1:n.356C>T

Select item 143757098913.

rs1437570989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:25320218 (GRCh38)
22:25716185 (GRCh37)
Canonical SPDI:: NC_000022.11:25320217:C:A,NC_000022.11:25320217:C:G
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.25320218C>A, NC_000022.11:g.25320218C>G, NC_000022.10:g.25716185C>A, NC_000022.10:g.25716185C>G, NM_001013618.1:c.*132C>A, NM_001013618.1:c.*132C>G, NR_029395.1:n.667C>A, NR_029395.1:n.667C>G

Select item 143746517814.

rs1437465178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:25320152 (GRCh38)
22:25716119 (GRCh37)
Canonical SPDI:: NC_000022.11:25320151:C:T
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.25320152C>T, NC_000022.10:g.25716119C>T, NM_001013618.1:c.*66C>T, NR_029395.1:n.601C>T

Select item 143510355415.

rs1435103554 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGAATGAC>- [Show Flanks]
Chromosome:: 22:25319853 (GRCh38)
22:25715820 (GRCh37)
Canonical SPDI:: NC_000022.11:25319851:CATGAATGAC:C
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.25319853_25319861del, NC_000022.10:g.25715820_25715828del, NM_001013618.1:c.442_450del, NR_029395.1:n.302_310del

Select item 143438436716.

rs1434384367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:25320030 (GRCh38)
22:25715997 (GRCh37)
Canonical SPDI:: NC_000022.11:25320029:G:A,NC_000022.11:25320029:G:T
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.25320030G>A, NC_000022.11:g.25320030G>T, NC_000022.10:g.25715997G>A, NC_000022.10:g.25715997G>T, NM_001013618.1:c.619G>A, NM_001013618.1:c.619G>T, NR_029395.1:n.479G>A, NR_029395.1:n.479G>T

Select item 143005231417.

rs1430052314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25318311 (GRCh38)
22:25714278 (GRCh37)
Canonical SPDI:: NC_000022.11:25318310:G:A
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.25318311G>A, NC_000022.10:g.25714278G>A, NM_001013618.1:c.291G>A, NR_029395.1:n.55G>A

Select item 142407888718.

rs1424078887 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:25319085 (GRCh38)
22:25715052 (GRCh37)
Canonical SPDI:: NC_000022.11:25319083:AGA:A
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25319085_25319086del, NC_000022.10:g.25715052_25715053del, NR_029395.1:n.163_164del

Select item 142377979219.

rs1423779792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25318272 (GRCh38)
22:25714239 (GRCh37)
Canonical SPDI:: NC_000022.11:25318271:G:A
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.25318272G>A, NC_000022.10:g.25714239G>A, NM_001013618.1:c.252G>A, NR_029395.1:n.16G>A

Select item 142204477520.

rs1422044775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGG>- [Show Flanks]
Chromosome:: 22:25320064 (GRCh38)
22:25716031 (GRCh37)
Canonical SPDI:: NC_000022.11:25320061:GGTGG:GG
Gene:: IGLL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000022.11:g.25320064_25320066del, NC_000022.10:g.25716031_25716033del, NM_001013618.1:c.653_655del, NR_029395.1:n.513_515del

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