SNP Links for Gene (Select 203259) - SNP

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Select item 14915843351.

rs1491584335 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:34416737 (GRCh38)
9:34416735 (GRCh37)
Canonical SPDI:: NC_000009.12:34416736:CA:
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.34416737_34416738del, NC_000009.11:g.34416735_34416736del, NG_027971.1:g.46833_46834del

Select item 14915680972.

rs1491568097 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:34418215 (GRCh38)
9:34418213 (GRCh37)
Canonical SPDI:: NC_000009.12:34418214:AG:
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000009.12:g.34418215_34418216del, NC_000009.11:g.34418213_34418214del, NG_027971.1:g.45355_45356del

Select item 14914600483.

rs1491460048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:34418215 (GRCh38)
9:34418214 (GRCh37)
Canonical SPDI:: NC_000009.12:34418215:GG:GGG
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.34418217dup, NC_000009.11:g.34418215dup, NG_027971.1:g.45355dup

Select item 14913948194.

rs1491394819 has merged into rs55988337 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:34411686 (GRCh38)
9:34411684 (GRCh37)
Canonical SPDI:: NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34411676:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
A=0.4437/2222 (1000Genomes)
HGVS:: NC_000009.12:g.34411686_34411693del, NC_000009.12:g.34411688_34411693del, NC_000009.12:g.34411689_34411693del, NC_000009.12:g.34411690_34411693del, NC_000009.12:g.34411691_34411693del, NC_000009.12:g.34411692_34411693del, NC_000009.12:g.34411693del, NC_000009.12:g.34411693dup, NC_000009.12:g.34411692_34411693dup, NC_000009.12:g.34411691_34411693dup, NC_000009.12:g.34411690_34411693dup, NC_000009.12:g.34411687_34411693dup, NC_000009.12:g.34411685_34411693dup, NC_000009.12:g.34411684_34411693dup, NC_000009.11:g.34411684_34411691del, NC_000009.11:g.34411686_34411691del, NC_000009.11:g.34411687_34411691del, NC_000009.11:g.34411688_34411691del, NC_000009.11:g.34411689_34411691del, NC_000009.11:g.34411690_34411691del, NC_000009.11:g.34411691del, NC_000009.11:g.34411691dup, NC_000009.11:g.34411690_34411691dup, NC_000009.11:g.34411689_34411691dup, NC_000009.11:g.34411688_34411691dup, NC_000009.11:g.34411685_34411691dup, NC_000009.11:g.34411683_34411691dup, NC_000009.11:g.34411682_34411691dup, NG_027971.1:g.51887_51894del, NG_027971.1:g.51889_51894del, NG_027971.1:g.51890_51894del, NG_027971.1:g.51891_51894del, NG_027971.1:g.51892_51894del, NG_027971.1:g.51893_51894del, NG_027971.1:g.51894del, NG_027971.1:g.51894dup, NG_027971.1:g.51893_51894dup, NG_027971.1:g.51892_51894dup, NG_027971.1:g.51891_51894dup, NG_027971.1:g.51888_51894dup, NG_027971.1:g.51886_51894dup, NG_027971.1:g.51885_51894dup

Select item 14913828605.

rs1491382860 has merged into rs11352681 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 9:34446185 (GRCh38)
9:34446183 (GRCh37)
Canonical SPDI:: NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:34446172:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4822/2415 (1000Genomes)
HGVS:: NC_000009.12:g.34446185_34446188del, NC_000009.12:g.34446186_34446188del, NC_000009.12:g.34446187_34446188del, NC_000009.12:g.34446188del, NC_000009.12:g.34446188dup, NC_000009.12:g.34446187_34446188dup, NC_000009.12:g.34446186_34446188dup, NC_000009.12:g.34446184_34446188dup, NC_000009.11:g.34446183_34446186del, NC_000009.11:g.34446184_34446186del, NC_000009.11:g.34446185_34446186del, NC_000009.11:g.34446186del, NC_000009.11:g.34446186dup, NC_000009.11:g.34446185_34446186dup, NC_000009.11:g.34446184_34446186dup, NC_000009.11:g.34446182_34446186dup, NG_027971.1:g.17395_17398del, NG_027971.1:g.17396_17398del, NG_027971.1:g.17397_17398del, NG_027971.1:g.17398del, NG_027971.1:g.17398dup, NG_027971.1:g.17397_17398dup, NG_027971.1:g.17396_17398dup, NG_027971.1:g.17394_17398dup

Select item 14913042486.

rs1491304248 has merged into rs34174911 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAACAAACAAA>-,CAAA,CAAACAAA,CAAACAAACAAACAAA,CAAACAAACAAACAAACAAA,CAAACAAACAAACAAACAAACAAA,CAAACAAACAAACAAACAAACAAACAAA [Show Flanks]
Chromosome:: 9:34419094 (GRCh38)
9:34419092 (GRCh37)
Canonical SPDI:: NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAA,NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAACAAA,NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAACAAACAAA,NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAACAAACAAACAAACAAA,NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAACAAACAAACAAACAAACAAA,NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAACAAACAAACAAACAAACAAACAAA,NC_000009.12:34419073:CAAACAAACAAACAAACAAACAAACAAACAAA:CAAACAAACAAACAAACAAACAAACAAACAAACAAACAAACAAACAAA
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAAACAAACAAACAAACAAACAAA=0./0 (ALFA)
-=0.00463/1 (Vietnamese)
-=0.04073/204 (1000Genomes)
CAAA=0.1/4 (GENOME_DK)
HGVS:: NC_000009.12:g.34419074CAAA[5], NC_000009.12:g.34419074CAAA[6], NC_000009.12:g.34419074CAAA[7], NC_000009.12:g.34419074CAAA[9], NC_000009.12:g.34419074CAAA[10], NC_000009.12:g.34419074CAAA[11], NC_000009.12:g.34419074CAAA[12], NC_000009.11:g.34419072CAAA[5], NC_000009.11:g.34419072CAAA[6], NC_000009.11:g.34419072CAAA[7], NC_000009.11:g.34419072CAAA[9], NC_000009.11:g.34419072CAAA[10], NC_000009.11:g.34419072CAAA[11], NC_000009.11:g.34419072CAAA[12], NG_027971.1:g.44466TTTG[5], NG_027971.1:g.44466TTTG[6], NG_027971.1:g.44466TTTG[7], NG_027971.1:g.44466TTTG[9], NG_027971.1:g.44466TTTG[10], NG_027971.1:g.44466TTTG[11], NG_027971.1:g.44466TTTG[12]

Select item 14912921277.

rs1491292127 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 9:34415122 (GRCh38)
9:34415121 (GRCh37)
Canonical SPDI:: NC_000009.12:34415122:T:TAT
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.05452/328 (GnomAD)
HGVS:: NC_000009.12:g.34415123_34415124insAT, NC_000009.11:g.34415121_34415122insAT, NG_027971.1:g.48448_48449insTA

Select item 14912267288.

rs1491226728 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:34411676 (GRCh38)
9:34411674 (GRCh37)
Canonical SPDI:: NC_000009.12:34411675:CA:
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34411676_34411677del, NC_000009.11:g.34411674_34411675del, NG_027971.1:g.51894_51895del

Select item 14912124139.

rs1491212413 has merged into rs56144317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:34434206 (GRCh38)
9:34434204 (GRCh37)
Canonical SPDI:: NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34434201:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34434206_34434227del, NC_000009.12:g.34434211_34434227del, NC_000009.12:g.34434213_34434227del, NC_000009.12:g.34434214_34434227del, NC_000009.12:g.34434215_34434227del, NC_000009.12:g.34434216_34434227del, NC_000009.12:g.34434218_34434227del, NC_000009.12:g.34434219_34434227del, NC_000009.12:g.34434220_34434227del, NC_000009.12:g.34434221_34434227del, NC_000009.12:g.34434222_34434227del, NC_000009.12:g.34434223_34434227del, NC_000009.12:g.34434224_34434227del, NC_000009.12:g.34434225_34434227del, NC_000009.12:g.34434226_34434227del, NC_000009.12:g.34434227del, NC_000009.12:g.34434227dup, NC_000009.12:g.34434226_34434227dup, NC_000009.12:g.34434225_34434227dup, NC_000009.12:g.34434224_34434227dup, NC_000009.12:g.34434223_34434227dup, NC_000009.12:g.34434221_34434227dup, NC_000009.12:g.34434220_34434227dup, NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.34434227_34434228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.34434204_34434225del, NC_000009.11:g.34434209_34434225del, NC_000009.11:g.34434211_34434225del, NC_000009.11:g.34434212_34434225del, NC_000009.11:g.34434213_34434225del, NC_000009.11:g.34434214_34434225del, NC_000009.11:g.34434216_34434225del, NC_000009.11:g.34434217_34434225del, NC_000009.11:g.34434218_34434225del, NC_000009.11:g.34434219_34434225del, NC_000009.11:g.34434220_34434225del, NC_000009.11:g.34434221_34434225del, NC_000009.11:g.34434222_34434225del, NC_000009.11:g.34434223_34434225del, NC_000009.11:g.34434224_34434225del, NC_000009.11:g.34434225del, NC_000009.11:g.34434225dup, NC_000009.11:g.34434224_34434225dup, NC_000009.11:g.34434223_34434225dup, NC_000009.11:g.34434222_34434225dup, NC_000009.11:g.34434221_34434225dup, NC_000009.11:g.34434219_34434225dup, NC_000009.11:g.34434218_34434225dup, NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.34434225_34434226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027971.1:g.29348_29369del, NG_027971.1:g.29353_29369del, NG_027971.1:g.29355_29369del, NG_027971.1:g.29356_29369del, NG_027971.1:g.29357_29369del, NG_027971.1:g.29358_29369del, NG_027971.1:g.29360_29369del, NG_027971.1:g.29361_29369del, NG_027971.1:g.29362_29369del, NG_027971.1:g.29363_29369del, NG_027971.1:g.29364_29369del, NG_027971.1:g.29365_29369del, NG_027971.1:g.29366_29369del, NG_027971.1:g.29367_29369del, NG_027971.1:g.29368_29369del, NG_027971.1:g.29369del, NG_027971.1:g.29369dup, NG_027971.1:g.29368_29369dup, NG_027971.1:g.29367_29369dup, NG_027971.1:g.29366_29369dup, NG_027971.1:g.29365_29369dup, NG_027971.1:g.29363_29369dup, NG_027971.1:g.29362_29369dup, NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027971.1:g.29369_29370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149112240410.

rs1491122404 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:34434201 (GRCh38)
9:34434199 (GRCh37)
Canonical SPDI:: NC_000009.12:34434200:CA:
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00135/36 (TOMMO)
HGVS:: NC_000009.12:g.34434201_34434202del, NC_000009.11:g.34434199_34434200del, NG_027971.1:g.29369_29370del

Select item 149109244011.

rs1491092440 has merged into rs781741211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:34416820 (GRCh38)
9:34416818 (GRCh37)
Canonical SPDI:: NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34416808:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.01765/290 (TOMMO)
-=0.05482/100 (Korea1K)
HGVS:: NC_000009.12:g.34416820_34416830del, NC_000009.12:g.34416821_34416830del, NC_000009.12:g.34416822_34416830del, NC_000009.12:g.34416824_34416830del, NC_000009.12:g.34416825_34416830del, NC_000009.12:g.34416826_34416830del, NC_000009.12:g.34416829_34416830del, NC_000009.12:g.34416830del, NC_000009.12:g.34416830dup, NC_000009.12:g.34416829_34416830dup, NC_000009.12:g.34416828_34416830dup, NC_000009.12:g.34416827_34416830dup, NC_000009.12:g.34416826_34416830dup, NC_000009.12:g.34416825_34416830dup, NC_000009.12:g.34416824_34416830dup, NC_000009.12:g.34416830_34416831insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.34416818_34416828del, NC_000009.11:g.34416819_34416828del, NC_000009.11:g.34416820_34416828del, NC_000009.11:g.34416822_34416828del, NC_000009.11:g.34416823_34416828del, NC_000009.11:g.34416824_34416828del, NC_000009.11:g.34416827_34416828del, NC_000009.11:g.34416828del, NC_000009.11:g.34416828dup, NC_000009.11:g.34416827_34416828dup, NC_000009.11:g.34416826_34416828dup, NC_000009.11:g.34416825_34416828dup, NC_000009.11:g.34416824_34416828dup, NC_000009.11:g.34416823_34416828dup, NC_000009.11:g.34416822_34416828dup, NC_000009.11:g.34416828_34416829insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027971.1:g.46752_46762del, NG_027971.1:g.46753_46762del, NG_027971.1:g.46754_46762del, NG_027971.1:g.46756_46762del, NG_027971.1:g.46757_46762del, NG_027971.1:g.46758_46762del, NG_027971.1:g.46761_46762del, NG_027971.1:g.46762del, NG_027971.1:g.46762dup, NG_027971.1:g.46761_46762dup, NG_027971.1:g.46760_46762dup, NG_027971.1:g.46759_46762dup, NG_027971.1:g.46758_46762dup, NG_027971.1:g.46757_46762dup, NG_027971.1:g.46756_46762dup, NG_027971.1:g.46762_46763insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149109073212.

rs1491090732 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:34448994 (GRCh38)
9:34448992 (GRCh37)
Canonical SPDI:: NC_000009.12:34448993:GA:
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.34448994_34448995del, NC_000009.11:g.34448992_34448993del, NG_027971.1:g.14576_14577del

Select item 149108646513.

rs1491086465 has merged into rs113574730 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 9:34442695 (GRCh38)
9:34442693 (GRCh37)
Canonical SPDI:: NC_000009.12:34442684:AAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34442684:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34442684:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34442684:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34442684:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
-=0.3528/1308 (TWINSUK)
-=0.3644/215 (NorthernSweden)
-=0.3703/1427 (ALSPAC)
HGVS:: NC_000009.12:g.34442695_34442696del, NC_000009.12:g.34442696del, NC_000009.12:g.34442696dup, NC_000009.12:g.34442695_34442696dup, NC_000009.12:g.34442694_34442696dup, NC_000009.11:g.34442693_34442694del, NC_000009.11:g.34442694del, NC_000009.11:g.34442694dup, NC_000009.11:g.34442693_34442694dup, NC_000009.11:g.34442692_34442694dup, NG_027971.1:g.20885_20886del, NG_027971.1:g.20886del, NG_027971.1:g.20886dup, NG_027971.1:g.20885_20886dup, NG_027971.1:g.20884_20886dup

Select item 149093221814.

rs1490932218 has merged into rs149294812 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC,TCTCTC,TCTCTCTC [Show Flanks]
Chromosome:: 9:34437189 (GRCh38)
9:34437187 (GRCh37)
Canonical SPDI:: NC_000009.12:34437179:CTCTCTCTCTCTC:CTCTCTCTC,NC_000009.12:34437179:CTCTCTCTCTCTC:CTCTCTCTCTC,NC_000009.12:34437179:CTCTCTCTCTCTC:CTCTCTCTCTCTCTC,NC_000009.12:34437179:CTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTC=0./0 (ALFA)
CT=0.01046/52 (1000Genomes)
HGVS:: NC_000009.12:g.34437181TC[4], NC_000009.12:g.34437181TC[5], NC_000009.12:g.34437181TC[7], NC_000009.12:g.34437181TC[8], NC_000009.11:g.34437179TC[4], NC_000009.11:g.34437179TC[5], NC_000009.11:g.34437179TC[7], NC_000009.11:g.34437179TC[8], NG_027971.1:g.26380AG[4], NG_027971.1:g.26380AG[5], NG_027971.1:g.26380AG[7], NG_027971.1:g.26380AG[8]

Select item 149089923615.

rs1490899236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34453767 (GRCh38)
9:34453765 (GRCh37)
Canonical SPDI:: NC_000009.12:34453766:C:T
Gene:: FAM219A (Varview)
Functional Consequence:: intron_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_000009.12:g.34453767C>T, NC_000009.11:g.34453765C>T, NG_027971.1:g.9804G>A

Select item 149083649016.

rs1490836490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34412405 (GRCh38)
9:34412403 (GRCh37)
Canonical SPDI:: NC_000009.12:34412404:A:G
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.34412405A>G, NC_000009.11:g.34412403A>G, NG_027971.1:g.51166T>C

Select item 149072576217.

rs1490725762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34428838 (GRCh38)
9:34428836 (GRCh37)
Canonical SPDI:: NC_000009.12:34428837:A:G
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34428838A>G, NC_000009.11:g.34428836A>G, NG_027971.1:g.34733T>C

Select item 149069490618.

rs1490694906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:34429926 (GRCh38)
9:34429924 (GRCh37)
Canonical SPDI:: NC_000009.12:34429925:G:A,NC_000009.12:34429925:G:C
Gene:: FAM219A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.34429926G>A, NC_000009.12:g.34429926G>C, NC_000009.11:g.34429924G>A, NC_000009.11:g.34429924G>C, NG_027971.1:g.33645C>T, NG_027971.1:g.33645C>G

Select item 149065150219.

rs1490651502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGAAGGAAGGAA [Show Flanks]
Chromosome:: 9:34416278 (GRCh38)
9:34416277 (GRCh37)
Canonical SPDI:: NC_000009.12:34416278:GAAGGAAGGAA:GAAGGAAGGAACGAAGGAAGGAA
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAAGGAACGAAGGAAGGAA=0.000084/1 (ALFA)
GAAGGAAGGAAC=0.00006/6 (GnomAD)
HGVS:: NC_000009.12:g.34416279_34416289GAAG[2]GAACGAAGGAAGGAA[1], NC_000009.11:g.34416277_34416287GAAG[2]GAACGAAGGAAGGAA[1], NG_027971.1:g.47282_47292TTCC[2]TTCGTTCCTTCCTTC[1]

Select item 149054640920.

rs1490546409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34420703 (GRCh38)
9:34420701 (GRCh37)
Canonical SPDI:: NC_000009.12:34420702:G:A
Gene:: FAM219A (Varview), LOC124902145 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.34420703G>A, NC_000009.11:g.34420701G>A, NG_027971.1:g.42868C>T

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