SNP Links for Gene (Select 375607) - SNP

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Select item 14913398961.

rs1491339896 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:101175921 (GRCh38)
7:100819202 (GRCh37)
Canonical SPDI:: NC_000007.14:101175920:CA:
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.101175921_101175922del, NC_000007.13:g.100819202_100819203del

Select item 14911940872.

rs1491194087 has merged into rs34778981 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 7:101175932 (GRCh38)
7:100819213 (GRCh37)
Canonical SPDI:: NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:101175921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.3281/1643 (1000Genomes)
HGVS:: NC_000007.14:g.101175932_101175936del, NC_000007.14:g.101175933_101175936del, NC_000007.14:g.101175934_101175936del, NC_000007.14:g.101175935_101175936del, NC_000007.14:g.101175936del, NC_000007.14:g.101175936dup, NC_000007.14:g.101175935_101175936dup, NC_000007.14:g.101175934_101175936dup, NC_000007.14:g.101175933_101175936dup, NC_000007.14:g.101175932_101175936dup, NC_000007.13:g.100819213_100819217del, NC_000007.13:g.100819214_100819217del, NC_000007.13:g.100819215_100819217del, NC_000007.13:g.100819216_100819217del, NC_000007.13:g.100819217del, NC_000007.13:g.100819217dup, NC_000007.13:g.100819216_100819217dup, NC_000007.13:g.100819215_100819217dup, NC_000007.13:g.100819214_100819217dup, NC_000007.13:g.100819213_100819217dup

Select item 14910314763.

rs1491031476 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:101176519 (GRCh38)
7:100819800 (GRCh37)
Canonical SPDI:: NC_000007.14:101176517:AGA:A
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.101176519_101176520del, NC_000007.13:g.100819800_100819801del

Select item 14910268974.

rs1491026897 has merged into rs386410830 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:101178724 (GRCh38)
7:100822005 (GRCh37)
Canonical SPDI:: NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101178710:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.101178724_101178734del, NC_000007.14:g.101178727_101178734del, NC_000007.14:g.101178728_101178734del, NC_000007.14:g.101178729_101178734del, NC_000007.14:g.101178730_101178734del, NC_000007.14:g.101178732_101178734del, NC_000007.14:g.101178733_101178734del, NC_000007.14:g.101178734del, NC_000007.14:g.101178734dup, NC_000007.14:g.101178733_101178734dup, NC_000007.14:g.101178732_101178734dup, NC_000007.14:g.101178731_101178734dup, NC_000007.14:g.101178730_101178734dup, NC_000007.14:g.101178729_101178734dup, NC_000007.14:g.101178728_101178734dup, NC_000007.14:g.101178727_101178734dup, NC_000007.14:g.101178726_101178734dup, NC_000007.14:g.101178725_101178734dup, NC_000007.14:g.101178724_101178734dup, NC_000007.14:g.101178723_101178734dup, NC_000007.13:g.100822005_100822015del, NC_000007.13:g.100822008_100822015del, NC_000007.13:g.100822009_100822015del, NC_000007.13:g.100822010_100822015del, NC_000007.13:g.100822011_100822015del, NC_000007.13:g.100822013_100822015del, NC_000007.13:g.100822014_100822015del, NC_000007.13:g.100822015del, NC_000007.13:g.100822015dup, NC_000007.13:g.100822014_100822015dup, NC_000007.13:g.100822013_100822015dup, NC_000007.13:g.100822012_100822015dup, NC_000007.13:g.100822011_100822015dup, NC_000007.13:g.100822010_100822015dup, NC_000007.13:g.100822009_100822015dup, NC_000007.13:g.100822008_100822015dup, NC_000007.13:g.100822007_100822015dup, NC_000007.13:g.100822006_100822015dup, NC_000007.13:g.100822005_100822015dup, NC_000007.13:g.100822004_100822015dup

Select item 14909603475.

rs1490960347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:101170362 (GRCh38)
7:100813643 (GRCh37)
Canonical SPDI:: NC_000007.14:101170361:C:A,NC_000007.14:101170361:C:T
Gene:: VGF (Varview), NAT16 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101170362C>A, NC_000007.14:g.101170362C>T, NC_000007.13:g.100813643C>A, NC_000007.13:g.100813643C>T

Select item 14907071236.

rs1490707123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:101176276 (GRCh38)
7:100819557 (GRCh37)
Canonical SPDI:: NC_000007.14:101176275:C:A,NC_000007.14:101176275:C:T
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.101176276C>A, NC_000007.14:g.101176276C>T, NC_000007.13:g.100819557C>A, NC_000007.13:g.100819557C>T

Select item 14899865837.

rs1489986583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:101177252 (GRCh38)
7:100820533 (GRCh37)
Canonical SPDI:: NC_000007.14:101177251:G:C
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101177252G>C, NC_000007.13:g.100820533G>C

Select item 14896856748.

rs1489685674 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14896696719.

rs1489669671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:101181768 (GRCh38)
7:100825049 (GRCh37)
Canonical SPDI:: NC_000007.14:101181767:T:G
Gene:: NAT16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00164/3 (Korea1K)
HGVS:: NC_000007.14:g.101181768T>G, NC_000007.13:g.100825049T>G

Select item 148960514810.

rs1489605148 has merged into rs376663461 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 7:101171379 (GRCh38)
7:100814660 (GRCh37)
Canonical SPDI:: NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCT,NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT
Gene:: VGF (Varview), NAT16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCT=0./0 (ALFA)
CT=0.00016/1 (1000Genomes)
HGVS:: NC_000007.14:g.101171369CT[5], NC_000007.14:g.101171369CT[6], NC_000007.14:g.101171369CT[8], NC_000007.13:g.100814650CT[5], NC_000007.13:g.100814650CT[6], NC_000007.13:g.100814650CT[8], NM_198571.3:c.*697AG[5], NM_198571.3:c.*697AG[6], NM_198571.3:c.*697AG[8], NM_198571.2:c.*697AG[5], NM_198571.2:c.*697AG[6], NM_198571.2:c.*697AG[8], NM_001369694.1:c.*697AG[5], NM_001369694.1:c.*697AG[6], NM_001369694.1:c.*697AG[8], NM_001369695.1:c.*697AG[5], NM_001369695.1:c.*697AG[6], NM_001369695.1:c.*697AG[8]

Select item 148924241611.

rs1489242416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:101173317 (GRCh38)
7:100816598 (GRCh37)
Canonical SPDI:: NC_000007.14:101173316:T:A
Gene:: NAT16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101173317T>A, NC_000007.13:g.100816598T>A, NM_198571.3:c.516A>T, NM_198571.2:c.516A>T, NM_001369694.1:c.516A>T, NM_001369695.1:c.516A>T, NP_940973.2:p.Lys172Asn, NP_001356623.1:p.Lys172Asn, NP_001356624.1:p.Lys172Asn

Select item 148909155712.

rs1489091557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:101172597 (GRCh38)
7:100815878 (GRCh37)
Canonical SPDI:: NC_000007.14:101172596:G:A,NC_000007.14:101172596:G:T
Gene:: NAT16 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000045/12 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000007.14:g.101172597G>A, NC_000007.14:g.101172597G>T, NC_000007.13:g.100815878G>A, NC_000007.13:g.100815878G>T, NM_198571.3:c.592C>T, NM_198571.3:c.592C>A, NM_198571.2:c.592C>T, NM_198571.2:c.592C>A, NM_001369694.1:c.592C>T, NM_001369694.1:c.592C>A, NM_001369695.1:c.592C>T, NM_001369695.1:c.592C>A, NP_940973.2:p.Arg198Trp, NP_001356623.1:p.Arg198Trp, NP_001356624.1:p.Arg198Trp

Select item 148851795713.

rs1488517957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101181518 (GRCh38)
7:100824799 (GRCh37)
Canonical SPDI:: NC_000007.14:101181517:C:T
Gene:: NAT16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.101181518C>T, NC_000007.13:g.100824799C>T

Select item 148848684814.

rs1488486848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101180559 (GRCh38)
7:100823840 (GRCh37)
Canonical SPDI:: NC_000007.14:101180558:C:T
Gene:: NAT16 (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_000007.14:g.101180559C>T, NC_000007.13:g.100823840C>T, NG_078385.1:g.492C>T

Select item 148836282915.

rs1488362829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101173607 (GRCh38)
7:100816888 (GRCh37)
Canonical SPDI:: NC_000007.14:101173606:C:T
Gene:: NAT16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101173607C>T, NC_000007.13:g.100816888C>T

Select item 148792440316.

rs1487924403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:101179287 (GRCh38)
7:100822568 (GRCh37)
Canonical SPDI:: NC_000007.14:101179286:G:T
Gene:: NAT16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101179287G>T, NC_000007.13:g.100822568G>T

Select item 148752008917.

rs1487520089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:101173372 (GRCh38)
7:100816653 (GRCh37)
Canonical SPDI:: NC_000007.14:101173371:A:G
Gene:: NAT16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00034/1 (KOREAN)
HGVS:: NC_000007.14:g.101173372A>G, NC_000007.13:g.100816653A>G, NM_198571.3:c.461T>C, NM_198571.2:c.461T>C, NM_001369694.1:c.461T>C, NM_001369695.1:c.461T>C, NP_940973.2:p.Val154Ala, NP_001356623.1:p.Val154Ala, NP_001356624.1:p.Val154Ala

Select item 148751124518.

rs1487511245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:101181013 (GRCh38)
7:100824294 (GRCh37)
Canonical SPDI:: NC_000007.14:101181012:G:T
Gene:: NAT16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101181013G>T, NC_000007.13:g.100824294G>T

Select item 148744001519.

rs1487440015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101179316 (GRCh38)
7:100822597 (GRCh37)
Canonical SPDI:: NC_000007.14:101179315:G:A
Gene:: NAT16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.101179316G>A, NC_000007.13:g.100822597G>A

Select item 148737057720.

rs1487370577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101180101 (GRCh38)
7:100823382 (GRCh37)
Canonical SPDI:: NC_000007.14:101180100:G:A
Gene:: NAT16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101180101G>A, NC_000007.13:g.100823382G>A, NG_078385.1:g.34G>A, NM_198571.3:c.-64C>T, NM_198571.2:c.-64C>T, NM_001369694.1:c.-104C>T

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