SNP Links for Gene (Select 100287846) - SNP

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Select item 14913459341.

rs1491345934 has merged into rs61570910 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:47189882 (GRCh38)
8:48101505 (GRCh37)
Canonical SPDI:: NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:47189869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2177/1090 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000008.11:g.47189882_47189891del, NC_000008.11:g.47189883_47189891del, NC_000008.11:g.47189884_47189891del, NC_000008.11:g.47189885_47189891del, NC_000008.11:g.47189886_47189891del, NC_000008.11:g.47189887_47189891del, NC_000008.11:g.47189888_47189891del, NC_000008.11:g.47189889_47189891del, NC_000008.11:g.47189890_47189891del, NC_000008.11:g.47189891del, NC_000008.11:g.47189891dup, NC_000008.11:g.47189890_47189891dup, NC_000008.11:g.47189889_47189891dup, NC_000008.11:g.47189888_47189891dup, NC_000008.11:g.47189887_47189891dup, NC_000008.11:g.47189886_47189891dup, NC_000008.11:g.47189885_47189891dup, NC_000008.11:g.47189881_47189891dup, NC_000008.10:g.48101505_48101514del, NC_000008.10:g.48101506_48101514del, NC_000008.10:g.48101507_48101514del, NC_000008.10:g.48101508_48101514del, NC_000008.10:g.48101509_48101514del, NC_000008.10:g.48101510_48101514del, NC_000008.10:g.48101511_48101514del, NC_000008.10:g.48101512_48101514del, NC_000008.10:g.48101513_48101514del, NC_000008.10:g.48101514del, NC_000008.10:g.48101514dup, NC_000008.10:g.48101513_48101514dup, NC_000008.10:g.48101512_48101514dup, NC_000008.10:g.48101511_48101514dup, NC_000008.10:g.48101510_48101514dup, NC_000008.10:g.48101509_48101514dup, NC_000008.10:g.48101508_48101514dup, NC_000008.10:g.48101504_48101514dup, NR_037168.2:n.576_585del, NR_037168.2:n.577_585del, NR_037168.2:n.578_585del, NR_037168.2:n.579_585del, NR_037168.2:n.580_585del, NR_037168.2:n.581_585del, NR_037168.2:n.582_585del, NR_037168.2:n.583_585del, NR_037168.2:n.584_585del, NR_037168.2:n.585del, NR_037168.2:n.585dup, NR_037168.2:n.584_585dup, NR_037168.2:n.583_585dup, NR_037168.2:n.582_585dup, NR_037168.2:n.581_585dup, NR_037168.2:n.580_585dup, NR_037168.2:n.579_585dup, NR_037168.2:n.575_585dup, NR_037168.1:n.576_585del, NR_037168.1:n.577_585del, NR_037168.1:n.578_585del, NR_037168.1:n.579_585del, NR_037168.1:n.580_585del, NR_037168.1:n.581_585del, NR_037168.1:n.582_585del, NR_037168.1:n.583_585del, NR_037168.1:n.584_585del, NR_037168.1:n.585del, NR_037168.1:n.585dup, NR_037168.1:n.584_585dup, NR_037168.1:n.583_585dup, NR_037168.1:n.582_585dup, NR_037168.1:n.581_585dup, NR_037168.1:n.580_585dup, NR_037168.1:n.579_585dup, NR_037168.1:n.575_585dup, XM_047422516.1:c.*647_*656del, XM_047422516.1:c.*648_*656del, XM_047422516.1:c.*649_*656del, XM_047422516.1:c.*650_*656del, XM_047422516.1:c.*651_*656del, XM_047422516.1:c.*652_*656del, XM_047422516.1:c.*653_*656del, XM_047422516.1:c.*654_*656del, XM_047422516.1:c.*655_*656del, XM_047422516.1:c.*656del, XM_047422516.1:c.*656dup, XM_047422516.1:c.*655_*656dup, XM_047422516.1:c.*654_*656dup, XM_047422516.1:c.*653_*656dup, XM_047422516.1:c.*652_*656dup, XM_047422516.1:c.*651_*656dup, XM_047422516.1:c.*650_*656dup, XM_047422516.1:c.*646_*656dup, XM_047422517.1:c.*647_*656del, XM_047422517.1:c.*648_*656del, XM_047422517.1:c.*649_*656del, XM_047422517.1:c.*650_*656del, XM_047422517.1:c.*651_*656del, XM_047422517.1:c.*652_*656del, XM_047422517.1:c.*653_*656del, XM_047422517.1:c.*654_*656del, XM_047422517.1:c.*655_*656del, XM_047422517.1:c.*656del, XM_047422517.1:c.*656dup, XM_047422517.1:c.*655_*656dup, XM_047422517.1:c.*654_*656dup, XM_047422517.1:c.*653_*656dup, XM_047422517.1:c.*652_*656dup, XM_047422517.1:c.*651_*656dup, XM_047422517.1:c.*650_*656dup, XM_047422517.1:c.*646_*656dup

Select item 14911141482.

rs1491114148 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:47189870 (GRCh38)
8:48101494 (GRCh37)
Canonical SPDI:: NC_000008.11:47189870::G
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/2 (ALFA)
HGVS:: NC_000008.11:g.47189870_47189871insG, NC_000008.10:g.48101493_48101494insG, NR_037168.2:n.564_565insG, NR_037168.1:n.564_565insG, XM_047422516.1:c.*635_*636insG, XM_047422517.1:c.*635_*636insG

Select item 14910896963.

rs1491089696 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:47188290 (GRCh38)
8:48099914 (GRCh37)
Canonical SPDI:: NC_000008.11:47188290:G:GG
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.47188291dup, NC_000008.10:g.48099914dup

Select item 14910695954.

rs1491069595 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:47188281 (GRCh38)
8:48099904 (GRCh37)
Canonical SPDI:: NC_000008.11:47188279:AGA:A
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.47188281_47188282del, NC_000008.10:g.48099904_48099905del

Select item 14909120245.

rs1490912024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:47187384 (GRCh38)
8:48099007 (GRCh37)
Canonical SPDI:: NC_000008.11:47187383:G:A
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000008.11:g.47187384G>A, NC_000008.10:g.48099007G>A

Select item 14908854636.

rs1490885463 [Homo sapiens]

Variant type:: DEL
Alleles:: AATA>- [Show Flanks]
Chromosome:: 8:47188438 (GRCh38)
8:48100061 (GRCh37)
Canonical SPDI:: NC_000008.11:47188437:AATA:
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.47188438_47188441del, NC_000008.10:g.48100061_48100064del, XM_047422516.1:c.-57_-54del, XM_047422517.1:c.-57_-54del

Select item 14896780717.

rs1489678071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:47190698 (GRCh38)
8:48102321 (GRCh37)
Canonical SPDI:: NC_000008.11:47190697:C:T
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.47190698C>T, NC_000008.10:g.48102321C>T, NR_037168.2:n.1392C>T, NR_037168.1:n.1392C>T

Select item 14896672538.

rs1489667253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATC [Show Flanks]
Chromosome:: 8:47192924 (GRCh38)
8:48104548 (GRCh37)
Canonical SPDI:: NC_000008.11:47192924:TATC:TATCTATC
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATCTATC=0.000071/1 (ALFA)
TATC=0.000004/1 (TOPMED)
TATC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.47192925_47192928dup, NC_000008.10:g.48104548_48104551dup, NR_037168.2:n.3619_3622dup, XM_047422516.1:c.*2670_*2673dup, XM_047422517.1:c.*1920_*1923dup

Select item 14891038399.

rs1489103839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:47188810 (GRCh38)
8:48100433 (GRCh37)
Canonical SPDI:: NC_000008.11:47188809:A:C
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.47188810A>C, NC_000008.10:g.48100433A>C, XM_047422516.1:c.316A>C, XM_047422517.1:c.316A>C, XP_047278472.1:p.Ser106Arg, XP_047278473.1:p.Ser106Arg

Select item 148905359510.

rs1489053595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:47189713 (GRCh38)
8:48101336 (GRCh37)
Canonical SPDI:: NC_000008.11:47189712:C:T
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.47189713C>T, NC_000008.10:g.48101336C>T, NR_037168.2:n.407C>T, NR_037168.1:n.407C>T, XM_047422516.1:c.*478C>T, XM_047422517.1:c.*478C>T

Select item 148870568611.

rs1488705686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:47189205 (GRCh38)
8:48100828 (GRCh37)
Canonical SPDI:: NC_000008.11:47189204:G:A,NC_000008.11:47189204:G:C
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.47189205G>A, NC_000008.11:g.47189205G>C, NC_000008.10:g.48100828G>A, NC_000008.10:g.48100828G>C, XM_047422516.1:c.711G>A, XM_047422516.1:c.711G>C, XM_047422517.1:c.711G>A, XM_047422517.1:c.711G>C

Select item 148868823812.

rs1488688238 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCT>- [Show Flanks]
Chromosome:: 8:47192553 (GRCh38)
8:48104176 (GRCh37)
Canonical SPDI:: NC_000008.11:47192548:TTCTTTCT:TTCT
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTCT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.47192549TTCT[1], NC_000008.10:g.48104172TTCT[1], NR_037168.2:n.3243TTCT[1], NR_037168.1:n.3243TTCT[1], XM_047422516.1:c.*2294TTCT[1], XM_047422517.1:c.*1544TTCT[1]

Select item 148841552213.

rs1488415522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:47190383 (GRCh38)
8:48102006 (GRCh37)
Canonical SPDI:: NC_000008.11:47190382:G:A
Gene:: LOC100287846 (Varview), LOC124900251 (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_000008.11:g.47190383G>A, NC_000008.10:g.48102006G>A, NR_037168.2:n.1077G>A, NR_037168.1:n.1077G>A

Select item 148782003814.

rs1487820038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:47190690 (GRCh38)
8:48102313 (GRCh37)
Canonical SPDI:: NC_000008.11:47190689:T:A
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.47190690T>A, NC_000008.10:g.48102313T>A, NR_037168.2:n.1384T>A, NR_037168.1:n.1384T>A

Select item 148754673315.

rs1487546733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:47189500 (GRCh38)
8:48101123 (GRCh37)
Canonical SPDI:: NC_000008.11:47189499:T:C
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.47189500T>C, NC_000008.10:g.48101123T>C, NR_037168.2:n.194T>C, NR_037168.1:n.194T>C, XM_047422516.1:c.*265T>C, XM_047422517.1:c.*265T>C

Select item 148749407716.

rs1487494077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:47190305 (GRCh38)
8:48101928 (GRCh37)
Canonical SPDI:: NC_000008.11:47190304:G:T
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.47190305G>T, NC_000008.10:g.48101928G>T, NR_037168.2:n.999G>T, NR_037168.1:n.999G>T

Select item 148665805217.

rs1486658052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:47188726 (GRCh38)
8:48100349 (GRCh37)
Canonical SPDI:: NC_000008.11:47188725:C:A,NC_000008.11:47188725:C:T
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.47188726C>A, NC_000008.11:g.47188726C>T, NC_000008.10:g.48100349C>A, NC_000008.10:g.48100349C>T, XM_047422516.1:c.232C>A, XM_047422516.1:c.232C>T, XM_047422517.1:c.232C>A, XM_047422517.1:c.232C>T, XP_047278472.1:p.Arg78Trp, XP_047278473.1:p.Arg78Trp

Select item 148586168218.

rs1485861682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:47188196 (GRCh38)
8:48099819 (GRCh37)
Canonical SPDI:: NC_000008.11:47188195:C:T
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.47188196C>T, NC_000008.10:g.48099819C>T

Select item 148562896219.

rs1485628962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:47188377 (GRCh38)
8:48100000 (GRCh37)
Canonical SPDI:: NC_000008.11:47188376:A:G
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.47188377A>G, NC_000008.10:g.48100000A>G, XM_047422516.1:c.-118A>G, XM_047422517.1:c.-118A>G

Select item 148561980120.

rs1485619801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:47190577 (GRCh38)
8:48102200 (GRCh37)
Canonical SPDI:: NC_000008.11:47190576:T:C
Gene:: LOC100287846 (Varview), LOC124900251 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.47190577T>C, NC_000008.10:g.48102200T>C, NR_037168.2:n.1271T>C, NR_037168.1:n.1271T>C

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