SNP Links for Gene (Select 100128059) - SNP

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Select item 14896582921.

rs1489658292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:170309594 (GRCh38)
5:169736598 (GRCh37)
Canonical SPDI:: NC_000005.10:170309593:A:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.170309594A>T, NC_000005.9:g.169736598A>T, NR_147701.1:n.1289T>A

Select item 14895674332.

rs1489567433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:170314226 (GRCh38)
5:169741230 (GRCh37)
Canonical SPDI:: NC_000005.10:170314225:G:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170314226G>T, NC_000005.9:g.169741230G>T

Select item 14893005833.

rs1489300583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:170308933 (GRCh38)
5:169735937 (GRCh37)
Canonical SPDI:: NC_000005.10:170308932:G:A
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_transcript_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_000005.10:g.170308933G>A, NC_000005.9:g.169735937G>A, NR_147701.1:n.1950C>T

Select item 14877552934.

rs1487755293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:170310896 (GRCh38)
5:169737900 (GRCh37)
Canonical SPDI:: NC_000005.10:170310895:G:A
Gene:: LOC100128059 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.170310896G>A, NC_000005.9:g.169737900G>A

Select item 14865516915.

rs1486551691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:170314123 (GRCh38)
5:169741127 (GRCh37)
Canonical SPDI:: NC_000005.10:170314122:A:G
Gene:: LOC100128059 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.170314123A>G, NC_000005.9:g.169741127A>G

Select item 14864092816.

rs1486409281 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:170311617 (GRCh38)
5:169738621 (GRCh37)
Canonical SPDI:: NC_000005.10:170311616:T:
Gene:: LOC100128059 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.170311617del, NC_000005.9:g.169738621del

Select item 14862327067.

rs1486232706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:170312854 (GRCh38)
5:169739858 (GRCh37)
Canonical SPDI:: NC_000005.10:170312853:G:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.170312854G>T, NC_000005.9:g.169739858G>T

Select item 14861905778.

rs1486190577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:170308333 (GRCh38)
5:169735337 (GRCh37)
Canonical SPDI:: NC_000005.10:170308332:G:A,NC_000005.10:170308332:G:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.170308333G>A, NC_000005.10:g.170308333G>T, NC_000005.9:g.169735337G>A, NC_000005.9:g.169735337G>T

Select item 14857917509.

rs1485791750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:170308360 (GRCh38)
5:169735364 (GRCh37)
Canonical SPDI:: NC_000005.10:170308359:G:C
Gene:: LOC100128059 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000005.10:g.170308360G>C, NC_000005.9:g.169735364G>C

Select item 148478125910.

rs1484781259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:170311033 (GRCh38)
5:169738037 (GRCh37)
Canonical SPDI:: NC_000005.10:170311032:G:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.170311033G>T, NC_000005.9:g.169738037G>T

Select item 148426955911.

rs1484269559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170310543 (GRCh38)
5:169737547 (GRCh37)
Canonical SPDI:: NC_000005.10:170310542:T:C
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.170310543T>C, NC_000005.9:g.169737547T>C, NR_147701.1:n.340A>G

Select item 148380401812.

rs1483804018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:170313921 (GRCh38)
5:169740925 (GRCh37)
Canonical SPDI:: NC_000005.10:170313920:A:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.170313921A>T, NC_000005.9:g.169740925A>T

Select item 148347954013.

rs1483479540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:170313108 (GRCh38)
5:169740112 (GRCh37)
Canonical SPDI:: NC_000005.10:170313107:C:A,NC_000005.10:170313107:C:G
Gene:: LOC100128059 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.170313108C>A, NC_000005.10:g.170313108C>G, NC_000005.9:g.169740112C>A, NC_000005.9:g.169740112C>G

Select item 148312463614.

rs1483124636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:170311721 (GRCh38)
5:169738725 (GRCh37)
Canonical SPDI:: NC_000005.10:170311720:G:C
Gene:: LOC100128059 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170311721G>C, NC_000005.9:g.169738725G>C

Select item 148299773115.

rs1482997731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170310128 (GRCh38)
5:169737132 (GRCh37)
Canonical SPDI:: NC_000005.10:170310127:C:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.170310128C>T, NC_000005.9:g.169737132C>T, NR_147701.1:n.755G>A

Select item 148259742816.

rs1482597428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:170313234 (GRCh38)
5:169740238 (GRCh37)
Canonical SPDI:: NC_000005.10:170313233:G:A,NC_000005.10:170313233:G:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.170313234G>A, NC_000005.10:g.170313234G>T, NC_000005.9:g.169740238G>A, NC_000005.9:g.169740238G>T

Select item 148198105717.

rs1481981057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:170311754 (GRCh38)
5:169738758 (GRCh37)
Canonical SPDI:: NC_000005.10:170311753:A:T
Gene:: LOC100128059 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.170311754A>T, NC_000005.9:g.169738758A>T

Select item 148183450218.

rs1481834502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170309155 (GRCh38)
5:169736159 (GRCh37)
Canonical SPDI:: NC_000005.10:170309154:T:C
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170309155T>C, NC_000005.9:g.169736159T>C, NR_147701.1:n.1728A>G

Select item 147965126419.

rs1479651264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:170310411 (GRCh38)
5:169737415 (GRCh37)
Canonical SPDI:: NC_000005.10:170310410:G:C
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.170310411G>C, NC_000005.9:g.169737415G>C, NR_147701.1:n.472C>G

Select item 147912883720.

rs1479128837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:170309026 (GRCh38)
5:169736030 (GRCh37)
Canonical SPDI:: NC_000005.10:170309025:A:G
Gene:: LOC100128059 (Varview)
Functional Consequence:: non_coding_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_000005.10:g.170309026A>G, NC_000005.9:g.169736030A>G, NR_147701.1:n.1857T>C

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