SNP Links for Gene (Select 7343) - SNP

Links from Gene

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Select item 14915500951.

rs1491550095 has merged into rs372844914 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 17:44220094 (GRCh38)
17:42297462 (GRCh37)
Canonical SPDI:: NC_000017.11:44220085:GGGGGGGGGGG:GGGGGGGG,NC_000017.11:44220085:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:44220085:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:44220085:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:44220085:GGGGGGGGGGG:GGGGGGGGGGGGG
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.0213/82 (ALSPAC)
-=0.3438/11 (GENOME_DK)
G=0.4443/2225 (1000Genomes)
HGVS:: NC_000017.11:g.44220094_44220096del, NC_000017.11:g.44220095_44220096del, NC_000017.11:g.44220096del, NC_000017.11:g.44220096dup, NC_000017.11:g.44220095_44220096dup, NC_000017.10:g.42297462_42297464del, NC_000017.10:g.42297463_42297464del, NC_000017.10:g.42297464del, NC_000017.10:g.42297464dup, NC_000017.10:g.42297463_42297464dup, NG_029864.1:g.6539_6541del, NG_029864.1:g.6540_6541del, NG_029864.1:g.6541del, NG_029864.1:g.6541dup, NG_029864.1:g.6540_6541dup

Select item 14913897142.

rs1491389714 has merged into rs5820529 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 17:44221695 (GRCh38)
17:42299063 (GRCh37)
Canonical SPDI:: NC_000017.11:44221686:GGGGGGGGGGG:GGGGGGGG,NC_000017.11:44221686:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:44221686:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:44221686:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:44221686:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:44221686:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
GG=0.001171/310 (TOPMED)
GG=0.177117/887 (1000Genomes)
-=0.341204/1315 (ALSPAC)
HGVS:: NC_000017.11:g.44221695_44221697del, NC_000017.11:g.44221696_44221697del, NC_000017.11:g.44221697del, NC_000017.11:g.44221697dup, NC_000017.11:g.44221696_44221697dup, NC_000017.11:g.44221695_44221697dup, NC_000017.10:g.42299063_42299065del, NC_000017.10:g.42299064_42299065del, NC_000017.10:g.42299065del, NC_000017.10:g.42299065dup, NC_000017.10:g.42299064_42299065dup, NC_000017.10:g.42299063_42299065dup, NG_029864.1:g.4938_4940del, NG_029864.1:g.4939_4940del, NG_029864.1:g.4940del, NG_029864.1:g.4940dup, NG_029864.1:g.4939_4940dup, NG_029864.1:g.4938_4940dup

Select item 14913651603.

rs1491365160 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:44218595 (GRCh38)
17:42295964 (GRCh37)
Canonical SPDI:: NC_000017.11:44218595:AAAAAAAAAAAAA:AAAAAAAAAAAAAGAAAAAAAAAAAAA
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAAAAAGAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAG=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.44218596_44218608A[13]GAAAAAAAAAAAAA[1], NC_000017.10:g.42295964_42295976A[13]GAAAAAAAAAAAAA[1], NG_029864.1:g.8019_8031T[13]CTTTTTTTTTTTTT[1]

Select item 14912256214.

rs1491225621 has merged into rs71160095 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:44218600 (GRCh38)
17:42295968 (GRCh37)
Canonical SPDI:: NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44218594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44218600_44218609del, NC_000017.11:g.44218605_44218609del, NC_000017.11:g.44218606_44218609del, NC_000017.11:g.44218607_44218609del, NC_000017.11:g.44218608_44218609del, NC_000017.11:g.44218609del, NC_000017.11:g.44218609dup, NC_000017.11:g.44218608_44218609dup, NC_000017.11:g.44218607_44218609dup, NC_000017.11:g.44218606_44218609dup, NC_000017.11:g.44218605_44218609dup, NC_000017.11:g.44218604_44218609dup, NC_000017.11:g.44218603_44218609dup, NC_000017.11:g.44218602_44218609dup, NC_000017.11:g.44218601_44218609dup, NC_000017.11:g.44218600_44218609dup, NC_000017.11:g.44218599_44218609dup, NC_000017.11:g.44218598_44218609dup, NC_000017.11:g.44218597_44218609dup, NC_000017.11:g.44218596_44218609dup, NC_000017.11:g.44218595_44218609dup, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAA, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAAA, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAAAA, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.44218609_44218610insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.42295968_42295977del, NC_000017.10:g.42295973_42295977del, NC_000017.10:g.42295974_42295977del, NC_000017.10:g.42295975_42295977del, NC_000017.10:g.42295976_42295977del, NC_000017.10:g.42295977del, NC_000017.10:g.42295977dup, NC_000017.10:g.42295976_42295977dup, NC_000017.10:g.42295975_42295977dup, NC_000017.10:g.42295974_42295977dup, NC_000017.10:g.42295973_42295977dup, NC_000017.10:g.42295972_42295977dup, NC_000017.10:g.42295971_42295977dup, NC_000017.10:g.42295970_42295977dup, NC_000017.10:g.42295969_42295977dup, NC_000017.10:g.42295968_42295977dup, NC_000017.10:g.42295967_42295977dup, NC_000017.10:g.42295966_42295977dup, NC_000017.10:g.42295965_42295977dup, NC_000017.10:g.42295964_42295977dup, NC_000017.10:g.42295963_42295977dup, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAA, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAAA, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAAAA, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.42295977_42295978insAAAAAAAAAAAAAAAAAAAAAA, NG_029864.1:g.8023_8032del, NG_029864.1:g.8028_8032del, NG_029864.1:g.8029_8032del, NG_029864.1:g.8030_8032del, NG_029864.1:g.8031_8032del, NG_029864.1:g.8032del, NG_029864.1:g.8032dup, NG_029864.1:g.8031_8032dup, NG_029864.1:g.8030_8032dup, NG_029864.1:g.8029_8032dup, NG_029864.1:g.8028_8032dup, NG_029864.1:g.8027_8032dup, NG_029864.1:g.8026_8032dup, NG_029864.1:g.8025_8032dup, NG_029864.1:g.8024_8032dup, NG_029864.1:g.8023_8032dup, NG_029864.1:g.8022_8032dup, NG_029864.1:g.8021_8032dup, NG_029864.1:g.8020_8032dup, NG_029864.1:g.8019_8032dup, NG_029864.1:g.8018_8032dup, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTT, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTTT, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTTTT, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTTTTT, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTTTTTT, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTTTTTTT, NG_029864.1:g.8032_8033insTTTTTTTTTTTTTTTTTTTTTT

Select item 14912204685.

rs1491220468 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:44221686 (GRCh38)
17:42299054 (GRCh37)
Canonical SPDI:: NC_000017.11:44221685:AG:
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.44221686_44221687del, NC_000017.10:g.42299054_42299055del, NG_029864.1:g.4940_4941del

Select item 14911248396.

rs1491124839 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:44220085 (GRCh38)
17:42297453 (GRCh37)
Canonical SPDI:: NC_000017.11:44220084:AG:
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00028/2 (GnomAD)
HGVS:: NC_000017.11:g.44220085_44220086del, NC_000017.10:g.42297453_42297454del, NG_029864.1:g.6541_6542del

Select item 14911236337.

rs1491123633 has merged into rs5820527 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 17:44221105 (GRCh38)
17:42298473 (GRCh37)
Canonical SPDI:: NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:44221098:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.32953/1270 (ALSPAC)
-=0.33/198 (NorthernSweden)
-=0.3301/1224 (TWINSUK)
T=0.41514/2079 (1000Genomes)
HGVS:: NC_000017.11:g.44221105_44221110del, NC_000017.11:g.44221106_44221110del, NC_000017.11:g.44221107_44221110del, NC_000017.11:g.44221108_44221110del, NC_000017.11:g.44221109_44221110del, NC_000017.11:g.44221110del, NC_000017.11:g.44221110dup, NC_000017.11:g.44221109_44221110dup, NC_000017.10:g.42298473_42298478del, NC_000017.10:g.42298474_42298478del, NC_000017.10:g.42298475_42298478del, NC_000017.10:g.42298476_42298478del, NC_000017.10:g.42298477_42298478del, NC_000017.10:g.42298478del, NC_000017.10:g.42298478dup, NC_000017.10:g.42298477_42298478dup, NG_029864.1:g.5523_5528del, NG_029864.1:g.5524_5528del, NG_029864.1:g.5525_5528del, NG_029864.1:g.5526_5528del, NG_029864.1:g.5527_5528del, NG_029864.1:g.5528del, NG_029864.1:g.5528dup, NG_029864.1:g.5527_5528dup

Select item 14911043838.

rs1491104383 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:44206432 (GRCh38)
17:42283800 (GRCh37)
Canonical SPDI:: NC_000017.11:44206430:CTC:C
Gene:: UBTF (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.020267/331 (ALFA)
-=0.017556/2372 (GnomAD)
-=0.018333/11 (NorthernSweden)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000017.11:g.44206432_44206433del, NC_000017.10:g.42283800_42283801del, NG_029864.1:g.20195_20196del, NM_014233.4:c.*810_*811del, NM_014233.3:c.*810_*811del, NM_001076684.3:c.*810_*811del, NM_001076684.2:c.*810_*811del, NR_045058.2:n.3276_3277del, NR_045058.1:n.3598_3599del, NM_001076683.2:c.*810_*811del, NM_001076683.1:c.*810_*811del

Select item 14909615939.

rs1490961593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:44220066 (GRCh38)
17:42297434 (GRCh37)
Canonical SPDI:: NC_000017.11:44220065:C:G,NC_000017.11:44220065:C:T
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.44220066C>G, NC_000017.11:g.44220066C>T, NC_000017.10:g.42297434C>G, NC_000017.10:g.42297434C>T, NG_029864.1:g.6561G>C, NG_029864.1:g.6561G>A

Select item 149061758110.

rs1490617581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44209807 (GRCh38)
17:42287175 (GRCh37)
Canonical SPDI:: NC_000017.11:44209806:A:G
Gene:: UBTF (Varview), MIR6782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.44209807A>G, NC_000017.10:g.42287175A>G, NG_029864.1:g.16820T>C

Select item 149028955511.

rs1490289555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:44208123 (GRCh38)
17:42285491 (GRCh37)
Canonical SPDI:: NC_000017.11:44208122:A:T
Gene:: UBTF (Varview), MIR6782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.44208123A>T, NC_000017.10:g.42285491A>T, NG_029864.1:g.18504T>A

Select item 148986627412.

rs1489866274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:44215431 (GRCh38)
17:42292799 (GRCh37)
Canonical SPDI:: NC_000017.11:44215430:G:C
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.44215431G>C, NC_000017.10:g.42292799G>C, NG_029864.1:g.11196C>G

Select item 148967681713.

rs1489676817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44209551 (GRCh38)
17:42286919 (GRCh37)
Canonical SPDI:: NC_000017.11:44209550:G:A
Gene:: UBTF (Varview), MIR6782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44209551G>A, NC_000017.10:g.42286919G>A, NG_029864.1:g.17076C>T

Select item 148961091814.

rs1489610918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:44206033 (GRCh38)
17:42283401 (GRCh37)
Canonical SPDI:: NC_000017.11:44206032:C:A,NC_000017.11:44206032:C:T
Gene:: UBTF (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.001436/21 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44206033C>A, NC_000017.11:g.44206033C>T, NC_000017.10:g.42283401C>A, NC_000017.10:g.42283401C>T, NG_029864.1:g.20594G>T, NG_029864.1:g.20594G>A, NM_014233.4:c.*1209G>T, NM_014233.4:c.*1209G>A, NM_014233.3:c.*1209G>T, NM_014233.3:c.*1209G>A, NM_001076684.3:c.*1209G>T, NM_001076684.3:c.*1209G>A, NM_001076684.2:c.*1209G>T, NM_001076684.2:c.*1209G>A, NR_045058.2:n.3675G>T, NR_045058.2:n.3675G>A, NR_045058.1:n.3997G>T, NR_045058.1:n.3997G>A, NM_001076683.2:c.*1209G>T, NM_001076683.2:c.*1209G>A, NM_001076683.1:c.*1209G>T, NM_001076683.1:c.*1209G>A

Select item 148958617715.

rs1489586177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44218727 (GRCh38)
17:42296095 (GRCh37)
Canonical SPDI:: NC_000017.11:44218726:G:A
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000076/20 (TOPMED)
HGVS:: NC_000017.11:g.44218727G>A, NC_000017.10:g.42296095G>A, NG_029864.1:g.7900C>T

Select item 148953512316.

rs1489535123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44214038 (GRCh38)
17:42291406 (GRCh37)
Canonical SPDI:: NC_000017.11:44214037:C:T
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.44214038C>T, NC_000017.10:g.42291406C>T, NG_029864.1:g.12589G>A

Select item 148914382117.

rs1489143821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44221750 (GRCh38)
17:42299118 (GRCh37)
Canonical SPDI:: NC_000017.11:44221749:C:T
Gene:: UBTF (Varview), ATXN7L3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.44221750C>T, NC_000017.10:g.42299118C>T, NG_029864.1:g.4877G>A

Select item 148902658718.

rs1489026587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44212492 (GRCh38)
17:42289860 (GRCh37)
Canonical SPDI:: NC_000017.11:44212491:A:G
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.44212492A>G, NC_000017.10:g.42289860A>G, NG_029864.1:g.14135T>C

Select item 148900442119.

rs1489004421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:44213410 (GRCh38)
17:42290778 (GRCh37)
Canonical SPDI:: NC_000017.11:44213409:G:A,NC_000017.11:44213409:G:C
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44213410G>A, NC_000017.11:g.44213410G>C, NC_000017.10:g.42290778G>A, NC_000017.10:g.42290778G>C, NG_029864.1:g.13217C>T, NG_029864.1:g.13217C>G

Select item 148898208320.

rs1488982083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44216197 (GRCh38)
17:42293565 (GRCh37)
Canonical SPDI:: NC_000017.11:44216196:C:T
Gene:: UBTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44216197C>T, NC_000017.10:g.42293565C>T, NG_029864.1:g.10430G>A

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