SNP Links for Gene (Select 100507056) - SNP

Links from Gene

Items: 1 to 20 of 3214

<< First< Prev

Page of 161

Next >Last >>

Select item 14915740871.

rs1491574087 has merged into rs1554593986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 8:127218709 (GRCh38)
8:128230954 (GRCh37)
Canonical SPDI:: NC_000008.11:127218701:ATATATATA:ATATATA,NC_000008.11:127218701:ATATATATA:ATATATATATA
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.127218703TA[3], NC_000008.11:g.127218703TA[5], NC_000008.10:g.128230948TA[3], NC_000008.10:g.128230948TA[5]

Select item 14914909592.

rs1491490959 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:127218669 (GRCh38)
8:128230915 (GRCh37)
Canonical SPDI:: NC_000008.11:127218669:A:ACA
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000008.11:g.127218670_127218671insCA, NC_000008.10:g.128230915_128230916insCA

Select item 14912618303.

rs1491261830 has merged into rs34844250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 8:127216933 (GRCh38)
8:128229178 (GRCh37)
Canonical SPDI:: NC_000008.11:127216921:TATATATATATATAT:TATATATATAT,NC_000008.11:127216921:TATATATATATATAT:TATATATATATAT,NC_000008.11:127216921:TATATATATATATAT:TATATATATATATATAT,NC_000008.11:127216921:TATATATATATATAT:TATATATATATATATATAT,NC_000008.11:127216921:TATATATATATATAT:TATATATATATATATATATAT
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATAT=0./0 (ALFA)
TA=0.3948/1977 (1000Genomes)
TA=0.4101/1797 (Estonian)
TA=0.475/19 (GENOME_DK)
HGVS:: NC_000008.11:g.127216923AT[5], NC_000008.11:g.127216923AT[6], NC_000008.11:g.127216923AT[8], NC_000008.11:g.127216923AT[9], NC_000008.11:g.127216923AT[10], NC_000008.10:g.128229168AT[5], NC_000008.10:g.128229168AT[6], NC_000008.10:g.128229168AT[8], NC_000008.10:g.128229168AT[9], NC_000008.10:g.128229168AT[10]

Select item 14909664444.

rs1490966444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:127209594 (GRCh38)
8:128221839 (GRCh37)
Canonical SPDI:: NC_000008.11:127209593:C:G
Gene:: CCAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127209594C>G, NC_000008.10:g.128221839C>G, NR_108049.1:n.583G>C

Select item 14908723315.

rs1490872331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:127207359 (GRCh38)
8:128219604 (GRCh37)
Canonical SPDI:: NC_000008.11:127207358:G:A
Gene:: CCAT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.127207359G>A, NC_000008.10:g.128219604G>A

Select item 14902718296.

rs1490271829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:127216701 (GRCh38)
8:128228946 (GRCh37)
Canonical SPDI:: NC_000008.11:127216700:C:G
Gene:: CCAT1 (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.127216701C>G, NC_000008.10:g.128228946C>G

Select item 14902669857.

rs1490266985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:127215736 (GRCh38)
8:128227981 (GRCh37)
Canonical SPDI:: NC_000008.11:127215735:T:G
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127215736T>G, NC_000008.10:g.128227981T>G

Select item 14898183138.

rs1489818313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:127208129 (GRCh38)
8:128220374 (GRCh37)
Canonical SPDI:: NC_000008.11:127208128:A:C
Gene:: CCAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127208129A>C, NC_000008.10:g.128220374A>C, NR_108049.1:n.2048T>G

Select item 14896795739.

rs1489679573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:127221021 (GRCh38)
8:128233266 (GRCh37)
Canonical SPDI:: NC_000008.11:127221020:T:G
Gene:: CCAT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.127221021T>G, NC_000008.10:g.128233266T>G

Select item 148952844610.

rs1489528446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGATT [Show Flanks]
Chromosome:: 8:127219026 (GRCh38)
8:128231272 (GRCh37)
Canonical SPDI:: NC_000008.11:127219026:TGGATT:TGGATTGGATT
Gene:: CCAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGATTGGATT=0./0 (ALFA)
TGGAT=0.000008/2 (TOPMED)
TGGAT=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.127219028_127219032dup, NC_000008.10:g.128231273_128231277dup, NR_108049.1:n.238_242dup

Select item 148946714111.

rs1489467141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127218481 (GRCh38)
8:128230726 (GRCh37)
Canonical SPDI:: NC_000008.11:127218480:C:T
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127218481C>T, NC_000008.10:g.128230726C>T

Select item 148914958212.

rs1489149582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:127215211 (GRCh38)
8:128227456 (GRCh37)
Canonical SPDI:: NC_000008.11:127215210:T:C
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127215211T>C, NC_000008.10:g.128227456T>C

Select item 148900912313.

rs1489009123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:127211550 (GRCh38)
8:128223795 (GRCh37)
Canonical SPDI:: NC_000008.11:127211549:T:A
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.127211550T>A, NC_000008.10:g.128223795T>A

Select item 148871596014.

rs1488715960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:127212254 (GRCh38)
8:128224499 (GRCh37)
Canonical SPDI:: NC_000008.11:127212253:G:T
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.127212254G>T, NC_000008.10:g.128224499G>T

Select item 148858771815.

rs1488587718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:127210957 (GRCh38)
8:128223202 (GRCh37)
Canonical SPDI:: NC_000008.11:127210956:A:C
Gene:: CCAT1 (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_000008.11:g.127210957A>C, NC_000008.10:g.128223202A>C, NG_051194.1:g.813A>C

Select item 148846051516.

rs1488460515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127220866 (GRCh38)
8:128233111 (GRCh37)
Canonical SPDI:: NC_000008.11:127220865:C:T
Gene:: CCAT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,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)
HGVS:: NC_000008.11:g.127220866C>T, NC_000008.10:g.128233111C>T

Select item 148807271617.

rs1488072716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:127209953 (GRCh38)
8:128222198 (GRCh37)
Canonical SPDI:: NC_000008.11:127209952:T:C,NC_000008.11:127209952:T:G
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.127209953T>C, NC_000008.11:g.127209953T>G, NC_000008.10:g.128222198T>C, NC_000008.10:g.128222198T>G

Select item 148797930618.

rs1487979306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:127219480 (GRCh38)
8:128231725 (GRCh37)
Canonical SPDI:: NC_000008.11:127219479:A:C
Gene:: CCAT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.127219480A>C, NC_000008.10:g.128231725A>C

Select item 148757482619.

rs1487574826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:127210107 (GRCh38)
8:128222352 (GRCh37)
Canonical SPDI:: NC_000008.11:127210106:A:C
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.127210107A>C, NC_000008.10:g.128222352A>C

Select item 148749982020.

rs1487499820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:127212016 (GRCh38)
8:128224261 (GRCh37)
Canonical SPDI:: NC_000008.11:127212015:A:G
Gene:: CCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
G=0.000684/2 (KOREAN)
HGVS:: NC_000008.11:g.127212016A>G, NC_000008.10:g.128224261A>G

<< First< Prev

Page of 161

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3214

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity