SNP Links for Nucleotide (Select 161484630) - SNP

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Links from Nucleotide

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Select item 14893476501.

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 14885713392.

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 14880513103.

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 14877702874.

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 14877106445.

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 14845893946.

rs1484589394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:115838270 (GRCh38)
1:116380891 (GRCh37)
Canonical SPDI:: NC_000001.11:115838269:C:G,NC_000001.11:115838269:C:T
Gene:: NHLH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.115838270C>G, NC_000001.11:g.115838270C>T, NC_000001.10:g.116380891C>G, NC_000001.10:g.116380891C>T, NM_005599.3:c.103G>C, NM_005599.3:c.103G>A, NM_001111061.2:c.103G>C, NM_001111061.2:c.103G>A, NM_001111061.1:c.103G>C, NM_001111061.1:c.103G>A, XM_047421407.1:c.103G>C, XM_047421407.1:c.103G>A, NP_005590.1:p.Val35Leu, NP_005590.1:p.Val35Met, NP_001104531.1:p.Val35Leu, NP_001104531.1:p.Val35Met, XP_047277363.1:p.Val35Leu, XP_047277363.1:p.Val35Met

Select item 14839776187.

rs1483977618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115841102 (GRCh38)
1:116383723 (GRCh37)
Canonical SPDI:: NC_000001.11:115841101:C:T
Gene:: NHLH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.115841102C>T, NC_000001.10:g.116383723C>T, NM_005599.3:c.-492G>A, XM_047421407.1:c.-492G>A

Select item 14836595038.

rs1483659503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:115840455 (GRCh38)
1:116383076 (GRCh37)
Canonical SPDI:: NC_000001.11:115840454:A:C
Gene:: NHLH2 (Varview)
Functional Consequence:: 5_prime_UTR_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.115840455A>C, NC_000001.10:g.116383076A>C, NM_005599.3:c.-248T>G, NM_001111061.2:c.-248T>G, NM_001111061.1:c.-248T>G, XM_047421407.1:c.-248T>G

Select item 14822537239.

rs1482253723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:115837749 (GRCh38)
1:116380370 (GRCh37)
Canonical SPDI:: NC_000001.11:115837748:G:C
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000001.11:g.115837749G>C, NC_000001.10:g.116380370G>C, NM_005599.3:c.*216C>G, NM_001111061.2:c.*216C>G, NM_001111061.1:c.*216C>G

Select item 148174712610.

rs1481747126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115836830 (GRCh38)
1:116379451 (GRCh37)
Canonical SPDI:: NC_000001.11:115836829:A:G
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.115836830A>G, NC_000001.10:g.116379451A>G, NM_005599.3:c.*1135T>C, NM_001111061.2:c.*1135T>C, NM_001111061.1:c.*1135T>C

Select item 148134192411.

rs1481341924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:115836425 (GRCh38)
1:116379046 (GRCh37)
Canonical SPDI:: NC_000001.11:115836424:A:T
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.115836425A>T, NC_000001.10:g.116379046A>T, NM_005599.3:c.*1540T>A, NM_001111061.2:c.*1540T>A, NM_001111061.1:c.*1540T>A

Select item 147757086412.

rs1477570864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:115837014 (GRCh38)
1:116379635 (GRCh37)
Canonical SPDI:: NC_000001.11:115837013:T:A
Gene:: NHLH2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.115837014T>A, NC_000001.10:g.116379635T>A, NM_005599.3:c.*951A>T, NM_001111061.2:c.*951A>T, NM_001111061.1:c.*951A>T

Select item 147686261513.

rs1476862615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115838163 (GRCh38)
1:116380784 (GRCh37)
Canonical SPDI:: NC_000001.11:115838162:G:A
Gene:: NHLH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.115838163G>A, NC_000001.10:g.116380784G>A, NM_005599.3:c.210C>T, NM_001111061.2:c.210C>T, NM_001111061.1:c.210C>T, XM_047421407.1:c.210C>T

Select item 147298192314.

rs1472981923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115840524 (GRCh38)
1:116383145 (GRCh37)
Canonical SPDI:: NC_000001.11:115840523:C:T
Gene:: NHLH2 (Varview)
Functional Consequence:: 5_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_000001.11:g.115840524C>T, NC_000001.10:g.116383145C>T, NM_005599.3:c.-317G>A, NM_001111061.2:c.-317G>A, NM_001111061.1:c.-317G>A, XM_047421407.1:c.-317G>A

Select item 147159823915.

rs1471598239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115836443 (GRCh38)
1:116379064 (GRCh37)
Canonical SPDI:: NC_000001.11:115836442:A:G
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.115836443A>G, NC_000001.10:g.116379064A>G, NM_005599.3:c.*1522T>C, NM_001111061.2:c.*1522T>C, NM_001111061.1:c.*1522T>C

Select item 147078872216.

rs1470788722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:115837716 (GRCh38)
1:116380337 (GRCh37)
Canonical SPDI:: NC_000001.11:115837715:C:A,NC_000001.11:115837715:C:T
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.115837716C>A, NC_000001.11:g.115837716C>T, NC_000001.10:g.116380337C>A, NC_000001.10:g.116380337C>T, NM_005599.3:c.*249G>T, NM_005599.3:c.*249G>A, NM_001111061.2:c.*249G>T, NM_001111061.2:c.*249G>A, NM_001111061.1:c.*249G>T, NM_001111061.1:c.*249G>A

Select item 146762805917.

rs1467628059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:115838147 (GRCh38)
1:116380768 (GRCh37)
Canonical SPDI:: NC_000001.11:115838146:C:G
Gene:: NHLH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115838147C>G, NC_000001.10:g.116380768C>G, NM_005599.3:c.226G>C, NM_001111061.2:c.226G>C, NM_001111061.1:c.226G>C, XM_047421407.1:c.226G>C, NP_005590.1:p.Ala76Pro, NP_001104531.1:p.Ala76Pro, XP_047277363.1:p.Ala76Pro

Select item 146641701318.

rs1466417013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115838012 (GRCh38)
1:116380633 (GRCh37)
Canonical SPDI:: NC_000001.11:115838011:G:A
Gene:: NHLH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.115838012G>A, NC_000001.10:g.116380633G>A, NM_005599.3:c.361C>T, NM_001111061.2:c.361C>T, NM_001111061.1:c.361C>T, XM_047421407.1:c.361C>T

Select item 146616124019.

rs1466161240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115840304 (GRCh38)
1:116382925 (GRCh37)
Canonical SPDI:: NC_000001.11:115840303:A:G
Gene:: NHLH2 (Varview)
Functional Consequence:: 5_prime_UTR_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.115840304A>G, NC_000001.10:g.116382925A>G, NM_005599.3:c.-97T>C, NM_001111061.2:c.-97T>C, NM_001111061.1:c.-97T>C, XM_047421407.1:c.-97T>C

Select item 146513039820.

rs1465130398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:115837277 (GRCh38)
1:116379898 (GRCh37)
Canonical SPDI:: NC_000001.11:115837276:G:T
Gene:: NHLH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000001.11:g.115837277G>T, NC_000001.10:g.116379898G>T, NM_005599.3:c.*688C>A, NM_001111061.2:c.*688C>A, NM_001111061.1:c.*688C>A