SNP Links for Gene (Select 113622) - SNP

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Select item 14915270291.

rs1491527029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 13:113425685 (GRCh38)
13:114080001 (GRCh37)
Canonical SPDI:: NC_000013.11:113425685:T:TCT
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.113425686_113425687insCT, NC_000013.10:g.114080001_114080002insCT

Select item 14914991862.

rs1491499186 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 13:113437079 (GRCh38)
13:114091395 (GRCh37)
Canonical SPDI:: NC_000013.11:113437079::GT
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
GT=0.000007/1 (GnomAD)
GT=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.113437079_113437080insGT, NC_000013.10:g.114091394_114091395insGT

Select item 14913650463.

rs1491365046 has merged into rs66812194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:113425695 (GRCh38)
13:114080010 (GRCh37)
Canonical SPDI:: NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:113425684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3482/1744 (1000Genomes)
HGVS:: NC_000013.11:g.113425695_113425698del, NC_000013.11:g.113425696_113425698del, NC_000013.11:g.113425697_113425698del, NC_000013.11:g.113425698del, NC_000013.11:g.113425698dup, NC_000013.11:g.113425697_113425698dup, NC_000013.11:g.113425696_113425698dup, NC_000013.11:g.113425695_113425698dup, NC_000013.11:g.113425691_113425698dup, NC_000013.10:g.114080010_114080013del, NC_000013.10:g.114080011_114080013del, NC_000013.10:g.114080012_114080013del, NC_000013.10:g.114080013del, NC_000013.10:g.114080013dup, NC_000013.10:g.114080012_114080013dup, NC_000013.10:g.114080011_114080013dup, NC_000013.10:g.114080010_114080013dup, NC_000013.10:g.114080006_114080013dup

Select item 14913494734.

rs1491349473 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 13:113437082 (GRCh38)
13:114091397 (GRCh37)
Canonical SPDI:: NC_000013.11:113437078:CACAC:CAC
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.113437080AC[1], NC_000013.10:g.114091395AC[1]

Select item 14912455365.

rs1491245536 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:113425684 (GRCh38)
13:114079999 (GRCh37)
Canonical SPDI:: NC_000013.11:113425682:TCT:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000013.11:g.113425684_113425685del, NC_000013.10:g.114079999_114080000del

Select item 14912112696.

rs1491211269 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:113450953 (GRCh38)
13:114105269 (GRCh37)
Canonical SPDI:: NC_000013.11:113450953::A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.113450953_113450954insA, NC_000013.10:g.114105268_114105269insA, XM_047430086.1:c.-1556_-1555insT

Select item 14910175657.

rs1491017565 has merged into rs67263619 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 13:113428257 (GRCh38)
13:114082572 (GRCh37)
Canonical SPDI:: NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:113428242:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.113428257_113428259del, NC_000013.11:g.113428258_113428259del, NC_000013.11:g.113428259del, NC_000013.11:g.113428259dup, NC_000013.11:g.113428258_113428259dup, NC_000013.11:g.113428257_113428259dup, NC_000013.11:g.113428256_113428259dup, NC_000013.11:g.113428255_113428259dup, NC_000013.11:g.113428254_113428259dup, NC_000013.10:g.114082572_114082574del, NC_000013.10:g.114082573_114082574del, NC_000013.10:g.114082574del, NC_000013.10:g.114082574dup, NC_000013.10:g.114082573_114082574dup, NC_000013.10:g.114082572_114082574dup, NC_000013.10:g.114082571_114082574dup, NC_000013.10:g.114082570_114082574dup, NC_000013.10:g.114082569_114082574dup

Select item 14910124648.

rs1491012464 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 13:113439463 (GRCh38)
13:114093778 (GRCh37)
Canonical SPDI:: NC_000013.11:113439462:TC:
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0009/4 (ALFA)
HGVS:: NC_000013.11:g.113439463_113439464del, NC_000013.10:g.114093778_114093779del

Select item 14910059329.

rs1491005932 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:113447176 (GRCh38)
13:114101491 (GRCh37)
Canonical SPDI:: NC_000013.11:113447169:TGTGTGTG:TGTGTG
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTG=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000013.11:g.113447170TG[3], NC_000013.10:g.114101485TG[3]

Select item 149078137410.

rs1490781374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113450395 (GRCh38)
13:114104710 (GRCh37)
Canonical SPDI:: NC_000013.11:113450394:G:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000013.11:g.113450395G>A, NC_000013.10:g.114104710G>A, XM_047430086.1:c.-997C>T

Select item 149076262611.

rs1490762626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:113439555 (GRCh38)
13:114093870 (GRCh37)
Canonical SPDI:: NC_000013.11:113439554:C:G,NC_000013.11:113439554:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.113439555C>G, NC_000013.11:g.113439555C>T, NC_000013.10:g.114093870C>G, NC_000013.10:g.114093870C>T

Select item 149074053012.

rs1490740530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:113451730 (GRCh38)
13:114106045 (GRCh37)
Canonical SPDI:: NC_000013.11:113451729:C:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000013.11:g.113451730C>A, NC_000013.10:g.114106045C>A, XM_047430086.1:c.-2332G>T

Select item 149072043413.

rs1490720434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:113430731 (GRCh38)
13:114085046 (GRCh37)
Canonical SPDI:: NC_000013.11:113430730:A:G
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00113/19 (TOMMO)
HGVS:: NC_000013.11:g.113430731A>G, NC_000013.10:g.114085046A>G

Select item 149068989914.

rs1490689899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:113429400 (GRCh38)
13:114083715 (GRCh37)
Canonical SPDI:: NC_000013.11:113429399:C:A,NC_000013.11:113429399:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00022/1 (ALFA)
T=0.00022/1 (Estonian)
A=0.00028/5 (TOMMO)
HGVS:: NC_000013.11:g.113429400C>A, NC_000013.11:g.113429400C>T, NC_000013.10:g.114083715C>A, NC_000013.10:g.114083715C>T

Select item 149066710215.

rs1490667102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:113427958 (GRCh38)
13:114082273 (GRCh37)
Canonical SPDI:: NC_000013.11:113427957:G:C
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000013.11:g.113427958G>C, NC_000013.10:g.114082273G>C

Select item 149055950816.

rs1490559508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113431403 (GRCh38)
13:114085718 (GRCh37)
Canonical SPDI:: NC_000013.11:113431402:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.113431403C>T, NC_000013.10:g.114085718C>T

Select item 149054762617.

rs1490547626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:113438728 (GRCh38)
13:114093043 (GRCh37)
Canonical SPDI:: NC_000013.11:113438727:T:C
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000013.11:g.113438728T>C, NC_000013.10:g.114093043T>C

Select item 149053376918.

rs1490533769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:113437704 (GRCh38)
13:114092019 (GRCh37)
Canonical SPDI:: NC_000013.11:113437703:C:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000013.11:g.113437704C>A, NC_000013.10:g.114092019C>A

Select item 149042643619.

rs1490426436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113422181 (GRCh38)
13:114076496 (GRCh37)
Canonical SPDI:: NC_000013.11:113422180:G:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,3_prime_UTR_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_000013.11:g.113422181G>A, NC_000013.10:g.114076496G>A, NM_138430.5:c.*641C>T, NM_138430.4:c.*641C>T, NM_199162.3:c.*641C>T, NM_199162.2:c.*641C>T, NM_199162.1:c.*641C>T

Select item 149020420120.

rs1490204201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113429450 (GRCh38)
13:114083765 (GRCh37)
Canonical SPDI:: NC_000013.11:113429449:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.113429450C>T, NC_000013.10:g.114083765C>T

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