SNP Links for Gene (Select 2841) - SNP

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Select item 14904568021.

rs1490456802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:99262148 (GRCh38)
13:99914402 (GRCh37)
Canonical SPDI:: NC_000013.11:99262147:T:A,NC_000013.11:99262147:T:C
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.99262148T>A, NC_000013.11:g.99262148T>C, NC_000013.10:g.99914402T>A, NC_000013.10:g.99914402T>C

Select item 14900374382.

rs1490037438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:99254416 (GRCh38)
13:99906670 (GRCh37)
Canonical SPDI:: NC_000013.11:99254415:T:C
Gene:: GPR18 (Varview), UBAC2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.99254416T>C, NC_000013.10:g.99906670T>C

Select item 14900182543.

rs1490018254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:99261504 (GRCh38)
13:99913758 (GRCh37)
Canonical SPDI:: NC_000013.11:99261503:C:T
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,genic_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_000013.11:g.99261504C>T, NC_000013.10:g.99913758C>T

Select item 14898314714.

rs1489831471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:99263950 (GRCh38)
13:99916204 (GRCh37)
Canonical SPDI:: NC_000013.11:99263949:G:A
Gene:: UBAC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.99263950G>A, NC_000013.10:g.99916204G>A

Select item 14895393075.

rs1489539307 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAAAAG>- [Show Flanks]
Chromosome:: 13:99262735 (GRCh38)
13:99914989 (GRCh37)
Canonical SPDI:: NC_000013.11:99262734:AAAAAAG:
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.00061/82 (GnomAD)
-=0.001093/7 (1000Genomes)
HGVS:: NC_000013.11:g.99262735_99262741del, NC_000013.10:g.99914989_99914995del

Select item 14892166666.

rs1489216666 has merged into rs61627160 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:99262720 (GRCh38)
13:99914974 (GRCh37)
Canonical SPDI:: NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99262710:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000013.11:g.99262720_99262740del, NC_000013.11:g.99262722_99262740del, NC_000013.11:g.99262723_99262740del, NC_000013.11:g.99262724_99262740del, NC_000013.11:g.99262725_99262740del, NC_000013.11:g.99262726_99262740del, NC_000013.11:g.99262727_99262740del, NC_000013.11:g.99262728_99262740del, NC_000013.11:g.99262729_99262740del, NC_000013.11:g.99262730_99262740del, NC_000013.11:g.99262731_99262740del, NC_000013.11:g.99262732_99262740del, NC_000013.11:g.99262733_99262740del, NC_000013.11:g.99262734_99262740del, NC_000013.11:g.99262735_99262740del, NC_000013.11:g.99262736_99262740del, NC_000013.11:g.99262737_99262740del, NC_000013.11:g.99262738_99262740del, NC_000013.11:g.99262739_99262740del, NC_000013.11:g.99262740del, NC_000013.11:g.99262740dup, NC_000013.11:g.99262739_99262740dup, NC_000013.11:g.99262738_99262740dup, NC_000013.11:g.99262737_99262740dup, NC_000013.11:g.99262736_99262740dup, NC_000013.11:g.99262735_99262740dup, NC_000013.11:g.99262734_99262740dup, NC_000013.11:g.99262733_99262740dup, NC_000013.11:g.99262732_99262740dup, NC_000013.11:g.99262731_99262740dup, NC_000013.11:g.99262730_99262740dup, NC_000013.11:g.99262729_99262740dup, NC_000013.11:g.99262728_99262740dup, NC_000013.11:g.99262727_99262740dup, NC_000013.11:g.99262726_99262740dup, NC_000013.11:g.99262725_99262740dup, NC_000013.11:g.99262724_99262740dup, NC_000013.11:g.99262722_99262740dup, NC_000013.11:g.99262721_99262740dup, NC_000013.11:g.99262720_99262740dup, NC_000013.11:g.99262719_99262740dup, NC_000013.11:g.99262717_99262740dup, NC_000013.11:g.99262713_99262740dup, NC_000013.11:g.99262740_99262741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.99914974_99914994del, NC_000013.10:g.99914976_99914994del, NC_000013.10:g.99914977_99914994del, NC_000013.10:g.99914978_99914994del, NC_000013.10:g.99914979_99914994del, NC_000013.10:g.99914980_99914994del, NC_000013.10:g.99914981_99914994del, NC_000013.10:g.99914982_99914994del, NC_000013.10:g.99914983_99914994del, NC_000013.10:g.99914984_99914994del, NC_000013.10:g.99914985_99914994del, NC_000013.10:g.99914986_99914994del, NC_000013.10:g.99914987_99914994del, NC_000013.10:g.99914988_99914994del, NC_000013.10:g.99914989_99914994del, NC_000013.10:g.99914990_99914994del, NC_000013.10:g.99914991_99914994del, NC_000013.10:g.99914992_99914994del, NC_000013.10:g.99914993_99914994del, NC_000013.10:g.99914994del, NC_000013.10:g.99914994dup, NC_000013.10:g.99914993_99914994dup, NC_000013.10:g.99914992_99914994dup, NC_000013.10:g.99914991_99914994dup, NC_000013.10:g.99914990_99914994dup, NC_000013.10:g.99914989_99914994dup, NC_000013.10:g.99914988_99914994dup, NC_000013.10:g.99914987_99914994dup, NC_000013.10:g.99914986_99914994dup, NC_000013.10:g.99914985_99914994dup, NC_000013.10:g.99914984_99914994dup, NC_000013.10:g.99914983_99914994dup, NC_000013.10:g.99914982_99914994dup, NC_000013.10:g.99914981_99914994dup, NC_000013.10:g.99914980_99914994dup, NC_000013.10:g.99914979_99914994dup, NC_000013.10:g.99914978_99914994dup, NC_000013.10:g.99914976_99914994dup, NC_000013.10:g.99914975_99914994dup, NC_000013.10:g.99914974_99914994dup, NC_000013.10:g.99914973_99914994dup, NC_000013.10:g.99914971_99914994dup, NC_000013.10:g.99914967_99914994dup, NC_000013.10:g.99914994_99914995insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14891725257.

rs1489172525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:99263405 (GRCh38)
13:99915659 (GRCh37)
Canonical SPDI:: NC_000013.11:99263404:C:T
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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_000013.11:g.99263405C>T, NC_000013.10:g.99915659C>T

Select item 14891528398.

rs1489152839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:99258796 (GRCh38)
13:99911050 (GRCh37)
Canonical SPDI:: NC_000013.11:99258795:T:C
Gene:: GPR18 (Varview), UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.99258796T>C, NC_000013.10:g.99911050T>C

Select item 14879076329.

rs1487907632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:99260136 (GRCh38)
13:99912390 (GRCh37)
Canonical SPDI:: NC_000013.11:99260135:T:C
Gene:: GPR18 (Varview), UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.99260136T>C, NC_000013.10:g.99912390T>C

Select item 148784708810.

rs1487847088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:99261129 (GRCh38)
13:99913383 (GRCh37)
Canonical SPDI:: NC_000013.11:99261128:C:A
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.99261129C>A, NC_000013.10:g.99913383C>A

Select item 148774891311.

rs1487748913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 13:99256727 (GRCh38)
13:99908981 (GRCh37)
Canonical SPDI:: NC_000013.11:99256726:T:A,NC_000013.11:99256726:T:C,NC_000013.11:99256726:T:G
Gene:: GPR18 (Varview), UBAC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/2 (GnomAD)
A=0.008214/24 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.99256727T>A, NC_000013.11:g.99256727T>C, NC_000013.11:g.99256727T>G, NC_000013.10:g.99908981T>A, NC_000013.10:g.99908981T>C, NC_000013.10:g.99908981T>G

Select item 148769573112.

rs1487695731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:99259083 (GRCh38)
13:99911337 (GRCh37)
Canonical SPDI:: NC_000013.11:99259082:C:G
Gene:: GPR18 (Varview), UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.99259083C>G, NC_000013.10:g.99911337C>G

Select item 148758987113.

rs1487589871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:99255158 (GRCh38)
13:99907412 (GRCh37)
Canonical SPDI:: NC_000013.11:99255157:C:T
Gene:: GPR18 (Varview), UBAC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.99255158C>T, NC_000013.10:g.99907412C>T, NM_005292.4:c.715G>A, NM_005292.3:c.715G>A, NM_001098200.2:c.715G>A, NM_001098200.1:c.715G>A, NP_005283.1:p.Val239Met, NP_001091670.1:p.Val239Met

Select item 148716579814.

rs1487165798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:99264163 (GRCh38)
13:99916417 (GRCh37)
Canonical SPDI:: NC_000013.11:99264162:G:A,NC_000013.11:99264162:G:C,NC_000013.11:99264162:G:T
Gene:: UBAC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.99264163G>A, NC_000013.11:g.99264163G>C, NC_000013.11:g.99264163G>T, NC_000013.10:g.99916417G>A, NC_000013.10:g.99916417G>C, NC_000013.10:g.99916417G>T

Select item 148698703615.

rs1486987036 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 13:99255888 (GRCh38)
13:99908142 (GRCh37)
Canonical SPDI:: NC_000013.11:99255887:T:
Gene:: GPR18 (Varview), UBAC2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.99255888del, NC_000013.10:g.99908142del, NM_005292.4:c.-16del, NM_005292.3:c.-16del, NM_001098200.2:c.-16del, NM_001098200.1:c.-16del

Select item 148695626116.

rs1486956261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:99261205 (GRCh38)
13:99913459 (GRCh37)
Canonical SPDI:: NC_000013.11:99261204:A:G
Gene:: UBAC2 (Varview), LOC124903198 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.99261205A>G, NC_000013.10:g.99913459A>G

Select item 148675442217.

rs1486754422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:99256654 (GRCh38)
13:99908908 (GRCh37)
Canonical SPDI:: NC_000013.11:99256653:A:G
Gene:: GPR18 (Varview), UBAC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.99256654A>G, NC_000013.10:g.99908908A>G

Select item 148658443418.

rs1486584434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:99255794 (GRCh38)
13:99908048 (GRCh37)
Canonical SPDI:: NC_000013.11:99255793:C:A
Gene:: GPR18 (Varview), UBAC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.99255794C>A, NC_000013.10:g.99908048C>A, NM_005292.4:c.79G>T, NM_005292.3:c.79G>T, NM_001098200.2:c.79G>T, NM_001098200.1:c.79G>T, NP_005283.1:p.Val27Phe, NP_001091670.1:p.Val27Phe

Select item 148626682419.

rs1486266824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:99264245 (GRCh38)
13:99916499 (GRCh37)
Canonical SPDI:: NC_000013.11:99264244:C:T
Gene:: UBAC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.99264245C>T, NC_000013.10:g.99916499C>T

Select item 148619450920.

rs1486194509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:99264353 (GRCh38)
13:99916607 (GRCh37)
Canonical SPDI:: NC_000013.11:99264352:G:A
Gene:: UBAC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.99264353G>A, NC_000013.10:g.99916607G>A

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