SNP Links for Gene (Select 4808) - SNP

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Select item 14914308201.

rs1491430820 has merged into rs34137281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:115831938 (GRCh38)
1:116374559 (GRCh37)
Canonical SPDI:: NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: NHLH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0662/255 (ALSPAC)
HGVS:: NC_000001.11:g.115831938_115831941del, NC_000001.11:g.115831939_115831941del, NC_000001.11:g.115831940_115831941del, NC_000001.11:g.115831941del, NC_000001.11:g.115831941dup, NC_000001.11:g.115831940_115831941dup, NC_000001.11:g.115831939_115831941dup, NC_000001.11:g.115831938_115831941dup, NC_000001.10:g.116374559_116374562del, NC_000001.10:g.116374560_116374562del, NC_000001.10:g.116374561_116374562del, NC_000001.10:g.116374562del, NC_000001.10:g.116374562dup, NC_000001.10:g.116374561_116374562dup, NC_000001.10:g.116374560_116374562dup, NC_000001.10:g.116374559_116374562dup, XM_047421407.1:c.*2794_*2797del, XM_047421407.1:c.*2795_*2797del, XM_047421407.1:c.*2796_*2797del, XM_047421407.1:c.*2797del, XM_047421407.1:c.*2797dup, XM_047421407.1:c.*2796_*2797dup, XM_047421407.1:c.*2795_*2797dup, XM_047421407.1:c.*2794_*2797dup

Select item 14912458632.

rs1491245863 has merged into rs34137281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:115831938 (GRCh38)
1:116374559 (GRCh37)
Canonical SPDI:: NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:115831924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: NHLH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0662/255 (ALSPAC)
HGVS:: NC_000001.11:g.115831938_115831941del, NC_000001.11:g.115831939_115831941del, NC_000001.11:g.115831940_115831941del, NC_000001.11:g.115831941del, NC_000001.11:g.115831941dup, NC_000001.11:g.115831940_115831941dup, NC_000001.11:g.115831939_115831941dup, NC_000001.11:g.115831938_115831941dup, NC_000001.10:g.116374559_116374562del, NC_000001.10:g.116374560_116374562del, NC_000001.10:g.116374561_116374562del, NC_000001.10:g.116374562del, NC_000001.10:g.116374562dup, NC_000001.10:g.116374561_116374562dup, NC_000001.10:g.116374560_116374562dup, NC_000001.10:g.116374559_116374562dup, XM_047421407.1:c.*2794_*2797del, XM_047421407.1:c.*2795_*2797del, XM_047421407.1:c.*2796_*2797del, XM_047421407.1:c.*2797del, XM_047421407.1:c.*2797dup, XM_047421407.1:c.*2796_*2797dup, XM_047421407.1:c.*2795_*2797dup, XM_047421407.1:c.*2794_*2797dup

Select item 14907869293.

rs1490786929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:115831320 (GRCh38)
1:116373941 (GRCh37)
Canonical SPDI:: NC_000001.11:115831319:G:A,NC_000001.11:115831319:G:C
Gene:: NHLH2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.115831320G>A, NC_000001.11:g.115831320G>C, NC_000001.10:g.116373941G>A, NC_000001.10:g.116373941G>C

Select item 14905964114.

rs1490596411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115830671 (GRCh38)
1:116373292 (GRCh37)
Canonical SPDI:: NC_000001.11:115830670:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.115830671C>T, NC_000001.10:g.116373292C>T

Select item 14903901305.

rs1490390130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115838488 (GRCh38)
1:116381109 (GRCh37)
Canonical SPDI:: NC_000001.11:115838487:G:A
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.115838488G>A, NC_000001.10:g.116381109G>A

Select item 14900483216.

rs1490048321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:115832013 (GRCh38)
1:116374634 (GRCh37)
Canonical SPDI:: NC_000001.11:115832012:C:A
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000001.11:g.115832013C>A, NC_000001.10:g.116374634C>A, XM_047421407.1:c.*2709G>T

Select item 14899092347.

rs1489909234 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:115832011 (GRCh38)
1:116374632 (GRCh37)
Canonical SPDI:: NC_000001.11:115832010:CCCCC:CCCC
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.115832015del, NC_000001.10:g.116374636del, XM_047421407.1:c.*2711del

Select item 14895062768.

rs1489506276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115833334 (GRCh38)
1:116375955 (GRCh37)
Canonical SPDI:: NC_000001.11:115833333:G:A
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.115833334G>A, NC_000001.10:g.116375955G>A, XM_047421407.1:c.*1388C>T

Select item 14894083919.

rs1489408391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115835998 (GRCh38)
1:116378619 (GRCh37)
Canonical SPDI:: NC_000001.11:115835997:A:G
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_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_000001.11:g.115835998A>G, NC_000001.10:g.116378619A>G

Select item 148934765010.

rs1489347650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:115837037 (GRCh38)
1:116379658 (GRCh37)
Canonical SPDI:: NC_000001.11:115837036:T:C
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.115837037T>C, NC_000001.10:g.116379658T>C, NM_005599.3:c.*928A>G, NM_001111061.2:c.*928A>G, NM_001111061.1:c.*928A>G

Select item 148932073711.

rs1489320737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115831140 (GRCh38)
1:116373761 (GRCh37)
Canonical SPDI:: NC_000001.11:115831139:G:A
Gene:: NHLH2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.115831140G>A, NC_000001.10:g.116373761G>A

Select item 148857133912.

rs1488571339 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 1:115836378 (GRCh38)
1:116379000 (GRCh37)
Canonical SPDI:: NC_000001.11:115836378::AA
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000001.11:g.115836378_115836379insAA, NC_000001.10:g.116378999_116379000insAA, NM_005599.3:c.*1586_*1587insTT, NM_001111061.2:c.*1586_*1587insTT, NM_001111061.1:c.*1586_*1587insTT

Select item 148813040613.

rs1488130406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:115829728 (GRCh38)
1:116372349 (GRCh37)
Canonical SPDI:: NC_000001.11:115829727:G:A,NC_000001.11:115829727:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.115829728G>A, NC_000001.11:g.115829728G>T, NC_000001.10:g.116372349G>A, NC_000001.10:g.116372349G>T

Select item 148805131014.

rs1488051310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:115836890 (GRCh38)
1:116379511 (GRCh37)
Canonical SPDI:: NC_000001.11:115836889:T:C
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.115836890T>C, NC_000001.10:g.116379511T>C, NM_005599.3:c.*1075A>G, NM_001111061.2:c.*1075A>G, NM_001111061.1:c.*1075A>G

Select item 148777028715.

rs1487770287 has merged into rs1184384130 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:115836507 (GRCh38)
1:116379128 (GRCh37)
Canonical SPDI:: NC_000001.11:115836506:AAAAAAA:AAAAAA,NC_000001.11:115836506:AAAAAAA:AAAAAAAA
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
A=0.000477/8 (TOMMO)
HGVS:: NC_000001.11:g.115836513del, NC_000001.11:g.115836513dup, NC_000001.10:g.116379134del, NC_000001.10:g.116379134dup, NM_005599.3:c.*1458del, NM_005599.3:c.*1458dup, NM_001111061.2:c.*1458del, NM_001111061.2:c.*1458dup, NM_001111061.1:c.*1458del, NM_001111061.1:c.*1458dup

Select item 148771064416.

rs1487710644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115837664 (GRCh38)
1:116380285 (GRCh37)
Canonical SPDI:: NC_000001.11:115837663:A:G
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000001.11:g.115837664A>G, NC_000001.10:g.116380285A>G, NM_005599.3:c.*301T>C, NM_001111061.2:c.*301T>C, NM_001111061.1:c.*301T>C

Select item 148754278217.

rs1487542782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115834176 (GRCh38)
1:116376797 (GRCh37)
Canonical SPDI:: NC_000001.11:115834175:G:A
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.115834176G>A, NC_000001.10:g.116376797G>A, XM_047421407.1:c.*546C>T

Select item 148716495618.

rs1487164956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:115835976 (GRCh38)
1:116378597 (GRCh37)
Canonical SPDI:: NC_000001.11:115835975:A:G,NC_000001.11:115835975:A:T
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.115835976A>G, NC_000001.11:g.115835976A>T, NC_000001.10:g.116378597A>G, NC_000001.10:g.116378597A>T

Select item 148682033619.

rs1486820336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:115841372 (GRCh38)
1:116383993 (GRCh37)
Canonical SPDI:: NC_000001.11:115841371:G:C,NC_000001.11:115841371:G:T
Gene:: NHLH2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.115841372G>C, NC_000001.11:g.115841372G>T, NC_000001.10:g.116383993G>C, NC_000001.10:g.116383993G>T

Select item 148646983320.

rs1486469833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:115834540 (GRCh38)
1:116377161 (GRCh37)
Canonical SPDI:: NC_000001.11:115834539:T:C
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.115834540T>C, NC_000001.10:g.116377161T>C

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