SNP Links for Gene (Select 339983) - SNP

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Select item 14915483171.

rs1491548317 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:2068233 (GRCh38)
4:2069960 (GRCh37)
Canonical SPDI:: NC_000004.12:2068231:GTG:G
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.2068233_2068234del, NC_000004.11:g.2069960_2069961del, NG_027961.1:g.13722_13723del, NM_178557.4:c.*4106_*4107del, NM_178557.3:c.*4106_*4107del

Select item 14915044792.

rs1491504479 has merged into rs35533610 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 4:2068137 (GRCh38)
4:2069864 (GRCh37)
Canonical SPDI:: NC_000004.12:2068127:GTGTGTGTGTGTG:GTGTGTGTG,NC_000004.12:2068127:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000004.12:2068127:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000004.12:2068127:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000004.12:2068127:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.0667/40 (NorthernSweden)
-=0.096/429 (Estonian)
-=0.1162/116 (GoNL)
-=0.2542/1273 (1000Genomes)
HGVS:: NC_000004.12:g.2068129TG[4], NC_000004.12:g.2068129TG[5], NC_000004.12:g.2068129TG[7], NC_000004.12:g.2068129TG[8], NC_000004.12:g.2068129TG[9], NC_000004.11:g.2069856TG[4], NC_000004.11:g.2069856TG[5], NC_000004.11:g.2069856TG[7], NC_000004.11:g.2069856TG[8], NC_000004.11:g.2069856TG[9], NG_027961.1:g.13618TG[4], NG_027961.1:g.13618TG[5], NG_027961.1:g.13618TG[7], NG_027961.1:g.13618TG[8], NG_027961.1:g.13618TG[9], NM_178557.4:c.*4002TG[4], NM_178557.4:c.*4002TG[5], NM_178557.4:c.*4002TG[7], NM_178557.4:c.*4002TG[8], NM_178557.4:c.*4002TG[9], NM_178557.3:c.*4002TG[4], NM_178557.3:c.*4002TG[5], NM_178557.3:c.*4002TG[7], NM_178557.3:c.*4002TG[8], NM_178557.3:c.*4002TG[9]

Select item 14912017883.

rs1491201788 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:2068232 (GRCh38)
4:2069960 (GRCh37)
Canonical SPDI:: NC_000004.12:2068232:T:TT
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2068233dup, NC_000004.11:g.2069960dup, NG_027961.1:g.13722dup, NM_178557.4:c.*4106dup, NM_178557.3:c.*4106dup

Select item 14908371794.

rs1490837179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2059458 (GRCh38)
4:2061185 (GRCh37)
Canonical SPDI:: NC_000004.12:2059457:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.2059458C>T, NC_000004.11:g.2061185C>T, NG_027961.1:g.4947C>T, NM_178557.4:c.-54C>T

Select item 14906458555.

rs1490645855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:2069427 (GRCh38)
4:2071154 (GRCh37)
Canonical SPDI:: NC_000004.12:2069426:T:G
Gene:: NAT8L (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2069427T>G, NC_000004.11:g.2071154T>G, NG_027961.1:g.14916T>G

Select item 14906092946.

rs1490609294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:2069355 (GRCh38)
4:2071082 (GRCh37)
Canonical SPDI:: NC_000004.12:2069354:A:T
Gene:: NAT8L (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.2069355A>T, NC_000004.11:g.2071082A>T, NG_027961.1:g.14844A>T

Select item 14903181377.

rs1490318137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:2068761 (GRCh38)
4:2070488 (GRCh37)
Canonical SPDI:: NC_000004.12:2068760:C:A
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.2068761C>A, NC_000004.11:g.2070488C>A, NG_027961.1:g.14250C>A, NM_178557.4:c.*4634C>A, NM_178557.3:c.*4634C>A

Select item 14900805908.

rs1490080590 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:2063382 (GRCh38)
4:2065109 (GRCh37)
Canonical SPDI:: NC_000004.12:2063381:TG:
Gene:: NAT8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.2063382_2063383del, NC_000004.11:g.2065109_2065110del, NG_027961.1:g.8871_8872del

Select item 14898273679.

rs1489827367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2069075 (GRCh38)
4:2070802 (GRCh37)
Canonical SPDI:: NC_000004.12:2069074:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2069075C>T, NC_000004.11:g.2070802C>T, NG_027961.1:g.14564C>T, NM_178557.4:c.*4948C>T, NM_178557.3:c.*4948C>T

Select item 148975067510.

rs1489750675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2062157 (GRCh38)
4:2063884 (GRCh37)
Canonical SPDI:: NC_000004.12:2062156:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: intron_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_000004.12:g.2062157C>T, NC_000004.11:g.2063884C>T, NG_027961.1:g.7646C>T

Select item 148972211011.

rs1489722110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:2067943 (GRCh38)
4:2069670 (GRCh37)
Canonical SPDI:: NC_000004.12:2067942:G:A,NC_000004.12:2067942:G:T
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
A=0.000038/10 (TOPMED)
HGVS:: NC_000004.12:g.2067943G>A, NC_000004.12:g.2067943G>T, NC_000004.11:g.2069670G>A, NC_000004.11:g.2069670G>T, NG_027961.1:g.13432G>A, NG_027961.1:g.13432G>T, NM_178557.4:c.*3816G>A, NM_178557.4:c.*3816G>T, NM_178557.3:c.*3816G>A, NM_178557.3:c.*3816G>T

Select item 148962534912.

rs1489625349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:2064502 (GRCh38)
4:2066229 (GRCh37)
Canonical SPDI:: NC_000004.12:2064501:C:A,NC_000004.12:2064501:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.2064502C>A, NC_000004.12:g.2064502C>T, NC_000004.11:g.2066229C>A, NC_000004.11:g.2066229C>T, NG_027961.1:g.9991C>A, NG_027961.1:g.9991C>T, NM_178557.4:c.*375C>A, NM_178557.4:c.*375C>T, NM_178557.3:c.*375C>A, NM_178557.3:c.*375C>T

Select item 148961378913.

rs1489613789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:2060994 (GRCh38)
4:2062721 (GRCh37)
Canonical SPDI:: NC_000004.12:2060993:C:G,NC_000004.12:2060993:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2060994C>G, NC_000004.12:g.2060994C>T, NC_000004.11:g.2062721C>G, NC_000004.11:g.2062721C>T, NG_027961.1:g.6483C>G, NG_027961.1:g.6483C>T

Select item 148935809014.

rs1489358090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:2067420 (GRCh38)
4:2069147 (GRCh37)
Canonical SPDI:: NC_000004.12:2067419:T:C
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2067420T>C, NC_000004.11:g.2069147T>C, NG_027961.1:g.12909T>C, NM_178557.4:c.*3293T>C, NM_178557.3:c.*3293T>C

Select item 148918147515.

rs1489181475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2059349 (GRCh38)
4:2061076 (GRCh37)
Canonical SPDI:: NC_000004.12:2059348:C:T
Gene:: NAT8L (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_000004.12:g.2059349C>T, NC_000004.11:g.2061076C>T, NG_027961.1:g.4838C>T, NM_178557.4:c.-163C>T

Select item 148863684516.

rs1488636845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:2063717 (GRCh38)
4:2065444 (GRCh37)
Canonical SPDI:: NC_000004.12:2063716:A:C,NC_000004.12:2063716:A:G
Gene:: NAT8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2063717A>C, NC_000004.12:g.2063717A>G, NC_000004.11:g.2065444A>C, NC_000004.11:g.2065444A>G, NG_027961.1:g.9206A>C, NG_027961.1:g.9206A>G

Select item 148854629517.

rs1488546295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:2060062 (GRCh38)
4:2061789 (GRCh37)
Canonical SPDI:: NC_000004.12:2060061:G:A,NC_000004.12:2060061:G:C
Gene:: NAT8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2060062G>A, NC_000004.12:g.2060062G>C, NC_000004.11:g.2061789G>A, NC_000004.11:g.2061789G>C, NG_027961.1:g.5551G>A, NG_027961.1:g.5551G>C

Select item 148811008718.

rs1488110087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:2063757 (GRCh38)
4:2065484 (GRCh37)
Canonical SPDI:: NC_000004.12:2063756:C:A,NC_000004.12:2063756:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000004.12:g.2063757C>A, NC_000004.12:g.2063757C>T, NC_000004.11:g.2065484C>A, NC_000004.11:g.2065484C>T, NG_027961.1:g.9246C>A, NG_027961.1:g.9246C>T

Select item 148789561519.

rs1487895615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:2059464 (GRCh38)
4:2061191 (GRCh37)
Canonical SPDI:: NC_000004.12:2059463:C:A
Gene:: NAT8L (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.2059464C>A, NC_000004.11:g.2061191C>A, NG_027961.1:g.4953C>A, NM_178557.4:c.-48C>A

Select item 148754144220.

rs1487541442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2067795 (GRCh38)
4:2069522 (GRCh37)
Canonical SPDI:: NC_000004.12:2067794:C:T
Gene:: NAT8L (Varview)
Functional Consequence:: 3_prime_UTR_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_000004.12:g.2067795C>T, NC_000004.11:g.2069522C>T, NG_027961.1:g.13284C>T, NM_178557.4:c.*3668C>T, NM_178557.3:c.*3668C>T

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