SNP Links for Nucleotide (Select 255652911) - SNP

Links from Nucleotide

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Select item 14914838371.

rs1491483837 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:46371771 (GRCh38)
3:46413262 (GRCh37)
Canonical SPDI:: NC_000003.12:46371770:CA:
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.46371771_46371772del, NC_000003.11:g.46413262_46413263del, NG_012637.1:g.6630_6631del

Select item 14903759632.

rs1490375963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:46370604 (GRCh38)
3:46412095 (GRCh37)
Canonical SPDI:: NC_000003.12:46370603:A:G,NC_000003.12:46370603:A:T
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000684/2 (KOREAN)
HGVS:: NC_000003.12:g.46370604A>G, NC_000003.12:g.46370604A>T, NC_000003.11:g.46412095A>G, NC_000003.11:g.46412095A>T, NG_012637.1:g.5463A>G, NG_012637.1:g.5463A>T

Select item 14903609773.

rs1490360977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:46371889 (GRCh38)
3:46413380 (GRCh37)
Canonical SPDI:: NC_000003.12:46371888:A:C
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_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_000003.12:g.46371889A>C, NC_000003.11:g.46413380A>C, NG_012637.1:g.6748A>C

Select item 14902136054.

rs1490213605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46371010 (GRCh38)
3:46412501 (GRCh37)
Canonical SPDI:: NC_000003.12:46371009:T:C
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_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.46371010T>C, NC_000003.11:g.46412501T>C, NG_012637.1:g.5869T>C

Select item 14902055625.

rs1490205562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46372350 (GRCh38)
3:46413841 (GRCh37)
Canonical SPDI:: NC_000003.12:46372349:G:A
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.46372350G>A, NC_000003.11:g.46413841G>A, NG_012637.1:g.7209G>A

Select item 14900660386.

rs1490066038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46367851 (GRCh38)
3:46409342 (GRCh37)
Canonical SPDI:: NC_000003.12:46367850:C:T
Gene:: CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46367851C>T, NC_000003.11:g.46409342C>T, NG_012637.1:g.2710C>T

Select item 14898822657.

rs1489882265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:46371299 (GRCh38)
3:46412790 (GRCh37)
Canonical SPDI:: NC_000003.12:46371298:A:T
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.46371299A>T, NC_000003.11:g.46412790A>T, NG_012637.1:g.6158A>T, NR_125406.1:n.510T>A

Select item 14893682448.

rs1489368244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46369307 (GRCh38)
3:46410798 (GRCh37)
Canonical SPDI:: NC_000003.12:46369306:T:C
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.46369307T>C, NC_000003.11:g.46410798T>C, NG_012637.1:g.4166T>C

Select item 14893071829.

rs1489307182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:46377914 (GRCh38)
3:46419405 (GRCh37)
Canonical SPDI:: NC_000003.12:46377913:C:A
Gene:: CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46377914C>A, NC_000003.11:g.46419405C>A, NG_012637.1:g.12773C>A

Select item 148871355410.

rs1488713554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46367843 (GRCh38)
3:46409334 (GRCh37)
Canonical SPDI:: NC_000003.12:46367842:A:G
Gene:: CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.46367843A>G, NC_000003.11:g.46409334A>G, NG_012637.1:g.2702A>G

Select item 148856355811.

rs1488563558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:46376450 (GRCh38)
3:46417941 (GRCh37)
Canonical SPDI:: NC_000003.12:46376449:T:G
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.46376450T>G, NC_000003.11:g.46417941T>G, NG_012637.1:g.11309T>G

Select item 148847229012.

rs1488472290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46377425 (GRCh38)
3:46418916 (GRCh37)
Canonical SPDI:: NC_000003.12:46377424:C:T
Gene:: CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46377425C>T, NC_000003.11:g.46418916C>T, NG_012637.1:g.12284C>T

Select item 148806038213.

rs1488060382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46369070 (GRCh38)
3:46410561 (GRCh37)
Canonical SPDI:: NC_000003.12:46369069:T:C
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46369070T>C, NC_000003.11:g.46410561T>C, NG_012637.1:g.3929T>C

Select item 148806010914.

rs1488060109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 3:46365700 (GRCh38)
3:46407191 (GRCh37)
Canonical SPDI:: NC_000003.12:46365699:A:C,NC_000003.12:46365699:A:G,NC_000003.12:46365699:A:T
Gene:: CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.46365700A>C, NC_000003.12:g.46365700A>G, NC_000003.12:g.46365700A>T, NC_000003.11:g.46407191A>C, NC_000003.11:g.46407191A>G, NC_000003.11:g.46407191A>T, NG_012637.1:g.559A>C, NG_012637.1:g.559A>G, NG_012637.1:g.559A>T

Select item 148799532715.

rs1487995327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46375620 (GRCh38)
3:46417111 (GRCh37)
Canonical SPDI:: NC_000003.12:46375619:C:T
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46375620C>T, NC_000003.11:g.46417111C>T, NG_012637.1:g.10479C>T, NM_000579.4:c.*1659C>T, NM_000579.3:c.*1659C>T, NM_001100168.2:c.*1659C>T, NM_001100168.1:c.*1659C>T, NM_001394783.1:c.*1659C>T, NM_001105536.1:c.*1659C>T

Select item 148786825716.

rs1487868257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46372674 (GRCh38)
3:46414165 (GRCh37)
Canonical SPDI:: NC_000003.12:46372673:A:G
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46372674A>G, NC_000003.11:g.46414165A>G, NG_012637.1:g.7533A>G

Select item 148776791617.

rs1487767916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46368787 (GRCh38)
3:46410278 (GRCh37)
Canonical SPDI:: NC_000003.12:46368786:A:G
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46368787A>G, NC_000003.11:g.46410278A>G, NG_012637.1:g.3646A>G

Select item 148773533118.

rs1487735331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46369799 (GRCh38)
3:46411290 (GRCh37)
Canonical SPDI:: NC_000003.12:46369798:G:C
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.46369799G>C, NC_000003.11:g.46411290G>C, NG_012637.1:g.4658G>C

Select item 148737896519.

rs1487378965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46370109 (GRCh38)
3:46411600 (GRCh37)
Canonical SPDI:: NC_000003.12:46370108:A:G
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46370109A>G, NC_000003.11:g.46411600A>G, NG_012637.1:g.4968A>G

Select item 148720973520.

rs1487209735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46373405 (GRCh38)
3:46414896 (GRCh37)
Canonical SPDI:: NC_000003.12:46373404:G:C
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46373405G>C, NC_000003.11:g.46414896G>C, NG_012637.1:g.8264G>C, NM_000579.4:c.503G>C, NM_000579.3:c.503G>C, NM_001100168.2:c.503G>C, NM_001100168.1:c.503G>C, NM_001394783.1:c.503G>C, NM_001105536.1:c.503G>C, NP_000570.1:p.Arg168Thr, NP_001093638.1:p.Arg168Thr, NP_001381712.1:p.Arg168Thr

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