SNP Links for Gene (Select 10126) - SNP

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Select item 14915533751.

rs1491553375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 22:38784976 (GRCh38)
22:39180982 (GRCh37)
Canonical SPDI:: NC_000022.11:38784976:C:CGC
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CG=0.00002/1 (GnomAD)
HGVS:: NC_000022.11:g.38784977_38784978insGC, NC_000022.10:g.39180982_39180983insGC, NG_041804.1:g.14180_14181insCG

Select item 14914653182.

rs1491465318 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 22:38795699 (GRCh38)
22:39191704 (GRCh37)
Canonical SPDI:: NC_000022.11:38795698:GGGGGG:GGGGG,NC_000022.11:38795698:GGGGGG:GGGGGGG
Gene:: DNAL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.38795704del, NC_000022.11:g.38795704dup, NC_000022.10:g.39191709del, NC_000022.10:g.39191709dup, NG_041804.1:g.3458del, NG_041804.1:g.3458dup

Select item 14914146243.

rs1491414624 has merged into rs34429714 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 22:38784985 (GRCh38)
22:39180990 (GRCh37)
Canonical SPDI:: NC_000022.11:38784975:CCCCCCCCCCC:CCCCCCCCC,NC_000022.11:38784975:CCCCCCCCCCC:CCCCCCCCCC,NC_000022.11:38784975:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:38784975:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:38784975:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
-=0.20907/1047 (1000Genomes)
HGVS:: NC_000022.11:g.38784985_38784986del, NC_000022.11:g.38784986del, NC_000022.11:g.38784986dup, NC_000022.11:g.38784985_38784986dup, NC_000022.11:g.38784984_38784986dup, NC_000022.10:g.39180990_39180991del, NC_000022.10:g.39180991del, NC_000022.10:g.39180991dup, NC_000022.10:g.39180990_39180991dup, NC_000022.10:g.39180989_39180991dup, NG_041804.1:g.14180_14181del, NG_041804.1:g.14181del, NG_041804.1:g.14181dup, NG_041804.1:g.14180_14181dup, NG_041804.1:g.14179_14181dup

Select item 14913434274.

rs1491343427 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:38784980 (GRCh38)
22:39180986 (GRCh37)
Canonical SPDI:: NC_000022.11:38784980::G
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000212/4 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.38784980_38784981insG, NC_000022.10:g.39180985_39180986insG, NG_041804.1:g.14176_14177insC

Select item 14908008885.

rs1490800888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38791169 (GRCh38)
22:39187174 (GRCh37)
Canonical SPDI:: NC_000022.11:38791168:G:A
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00743/121 (ALFA)
HGVS:: NC_000022.11:g.38791169G>A, NC_000022.10:g.39187174G>A, NG_041804.1:g.7988C>T

Select item 14907029906.

rs1490702990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:38792205 (GRCh38)
22:39188210 (GRCh37)
Canonical SPDI:: NC_000022.11:38792204:C:A
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38792205C>A, NC_000022.10:g.39188210C>A, NG_041804.1:g.6952G>T

Select item 14906634277.

rs1490663427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:38780168 (GRCh38)
22:39176173 (GRCh37)
Canonical SPDI:: NC_000022.11:38780167:G:C
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.38780168G>C, NC_000022.10:g.39176173G>C, NG_041804.1:g.18989C>G

Select item 14903137058.

rs1490313705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:38790716 (GRCh38)
22:39186721 (GRCh37)
Canonical SPDI:: NC_000022.11:38790715:A:G
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.38790716A>G, NC_000022.10:g.39186721A>G, NG_041804.1:g.8441T>C

Select item 14902797349.

rs1490279734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38789746 (GRCh38)
22:39185751 (GRCh37)
Canonical SPDI:: NC_000022.11:38789745:G:A
Gene:: DNAL4 (Varview)
Functional Consequence:: 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_000022.11:g.38789746G>A, NC_000022.10:g.39185751G>A, NG_041804.1:g.9411C>T

Select item 148993148410.

rs1489931484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:38793378 (GRCh38)
22:39189383 (GRCh37)
Canonical SPDI:: NC_000022.11:38793377:C:A
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.38793378C>A, NC_000022.10:g.39189383C>A, NG_041804.1:g.5779G>T

Select item 148969793411.

rs1489697934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:38784566 (GRCh38)
22:39180571 (GRCh37)
Canonical SPDI:: NC_000022.11:38784565:A:G
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.38784566A>G, NC_000022.10:g.39180571A>G, NG_041804.1:g.14591T>C

Select item 148962597512.

rs1489625975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:38783737 (GRCh38)
22:39179742 (GRCh37)
Canonical SPDI:: NC_000022.11:38783736:G:C
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38783737G>C, NC_000022.10:g.39179742G>C, NG_041804.1:g.15420C>G

Select item 148956552813.

rs1489565528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:38778596 (GRCh38)
22:39174601 (GRCh37)
Canonical SPDI:: NC_000022.11:38778595:C:A
Gene:: DNAL4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.38778596C>A, NC_000022.10:g.39174601C>A, NG_041804.1:g.20561G>T, NM_005740.3:c.*853G>T, NM_005740.2:c.*853G>T

Select item 148950781914.

rs1489507819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:38783286 (GRCh38)
22:39179291 (GRCh37)
Canonical SPDI:: NC_000022.11:38783285:A:C,NC_000022.11:38783285:A:G
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000506/6 (ALFA)
G=0.000023/3 (GnomAD)
C=0.00006/1 (TOMMO)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.38783286A>C, NC_000022.11:g.38783286A>G, NC_000022.10:g.39179291A>C, NC_000022.10:g.39179291A>G, NG_041804.1:g.15871T>G, NG_041804.1:g.15871T>C

Select item 148917588415.

rs1489175884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:38785485 (GRCh38)
22:39181490 (GRCh37)
Canonical SPDI:: NC_000022.11:38785484:C:A,NC_000022.11:38785484:C:T
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00046/8 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000022.11:g.38785485C>A, NC_000022.11:g.38785485C>T, NC_000022.10:g.39181490C>A, NC_000022.10:g.39181490C>T, NG_041804.1:g.13672G>T, NG_041804.1:g.13672G>A

Select item 148914582416.

rs1489145824 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 22:38786573 (GRCh38)
22:39182578 (GRCh37)
Canonical SPDI:: NC_000022.11:38786572:C:
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.38786573del, NC_000022.10:g.39182578del, NG_041804.1:g.12584del

Select item 148895648917.

rs1488956489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:38793705 (GRCh38)
22:39189710 (GRCh37)
Canonical SPDI:: NC_000022.11:38793704:C:T
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.38793705C>T, NC_000022.10:g.39189710C>T, NG_041804.1:g.5452G>A

Select item 148877796718.

rs1488777967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:38786705 (GRCh38)
22:39182710 (GRCh37)
Canonical SPDI:: NC_000022.11:38786704:C:T
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38786705C>T, NC_000022.10:g.39182710C>T, NG_041804.1:g.12452G>A

Select item 148870432319.

rs1488704323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38793070 (GRCh38)
22:39189075 (GRCh37)
Canonical SPDI:: NC_000022.11:38793069:T:C
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_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_000022.11:g.38793070T>C, NC_000022.10:g.39189075T>C, NG_041804.1:g.6087A>G

Select item 148847979320.

rs1488479793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:38790174 (GRCh38)
22:39186179 (GRCh37)
Canonical SPDI:: NC_000022.11:38790173:T:C,NC_000022.11:38790173:T:G
Gene:: DNAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.38790174T>C, NC_000022.11:g.38790174T>G, NC_000022.10:g.39186179T>C, NC_000022.10:g.39186179T>G, NG_041804.1:g.8983A>G, NG_041804.1:g.8983A>C

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