SNP Links for Gene (Select 100996348) - SNP

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Select item 14913720021.

rs1491372002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 8:85444369 (GRCh38)
8:86356599 (GRCh37)
Canonical SPDI:: NC_000008.11:85444369:T:TAT
Gene:: CA3 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.000071/1 (ALFA)
TA=0.000022/2 (GnomAD)
TA=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.85444370_85444371insAT, NC_000008.10:g.86356599_86356600insAT

Select item 14912744402.

rs1491274440 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:85466127 (GRCh38)
8:86378356 (GRCh37)
Canonical SPDI:: NC_000008.11:85466126:TA:
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.85466127_85466128del, NC_000008.10:g.86378356_86378357del, NG_007287.1:g.7111_7112del

Select item 14911782283.

rs1491178228 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:85451931 (GRCh38)
8:86364160 (GRCh37)
Canonical SPDI:: NC_000008.11:85451929:AGA:A
Gene:: CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.85451931_85451932del, NC_000008.10:g.86364160_86364161del

Select item 14911682034.

rs1491168203 has merged into rs886063147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCC [Show Flanks]
Chromosome:: 8:85463997 (GRCh38)
8:86376227 (GRCh37)
Canonical SPDI:: NC_000008.11:85463997:CCC:CCCCCC
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
CCC=0.000008/2 (TOPMED)
CCC=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.85463998_85464000dup, NC_000008.10:g.86376227_86376229dup, NG_007287.1:g.4982_4984dup, NM_000067.2:c.-84_-82dup, NM_001293675.1:c.-268_-266dup

Select item 14911661265.

rs1491166126 has merged into rs10573662 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:85466134 (GRCh38)
8:86378363 (GRCh37)
Canonical SPDI:: NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:85466127:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1599/801 (1000Genomes)
HGVS:: NC_000008.11:g.85466134_85466144del, NC_000008.11:g.85466139_85466144del, NC_000008.11:g.85466140_85466144del, NC_000008.11:g.85466141_85466144del, NC_000008.11:g.85466142_85466144del, NC_000008.11:g.85466143_85466144del, NC_000008.11:g.85466144del, NC_000008.11:g.85466144dup, NC_000008.11:g.85466143_85466144dup, NC_000008.11:g.85466142_85466144dup, NC_000008.10:g.86378363_86378373del, NC_000008.10:g.86378368_86378373del, NC_000008.10:g.86378369_86378373del, NC_000008.10:g.86378370_86378373del, NC_000008.10:g.86378371_86378373del, NC_000008.10:g.86378372_86378373del, NC_000008.10:g.86378373del, NC_000008.10:g.86378373dup, NC_000008.10:g.86378372_86378373dup, NC_000008.10:g.86378371_86378373dup, NG_007287.1:g.7118_7128del, NG_007287.1:g.7123_7128del, NG_007287.1:g.7124_7128del, NG_007287.1:g.7125_7128del, NG_007287.1:g.7126_7128del, NG_007287.1:g.7127_7128del, NG_007287.1:g.7128del, NG_007287.1:g.7128dup, NG_007287.1:g.7127_7128dup, NG_007287.1:g.7126_7128dup

Select item 14911407586.

rs1491140758 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:85466679 (GRCh38)
8:86378908 (GRCh37)
Canonical SPDI:: NC_000008.11:85466677:ATA:A
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00615/73 (ALFA)
-=0.00007/2 (TOMMO)
-=0.00234/15 (1000Genomes)
-=0.00337/2 (NorthernSweden)
-=0.01312/690 (GnomAD)
-=0.12055/447 (TWINSUK)
-=0.12065/465 (ALSPAC)
HGVS:: NC_000008.11:g.85466679_85466680del, NC_000008.10:g.86378908_86378909del, NG_007287.1:g.7663_7664del

Select item 14910892197.

rs1491089219 has merged into rs147369468 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
Chromosome:: 8:85450782 (GRCh38)
8:86363011 (GRCh37)
Canonical SPDI:: NC_000008.11:85450776:ATATATATATA:ATATA,NC_000008.11:85450776:ATATATATATA:ATATATATA,NC_000008.11:85450776:ATATATATATA:ATATATATATATA,NC_000008.11:85450776:ATATATATATA:ATATATATATATATA,NC_000008.11:85450776:ATATATATATA:ATATATATATATATATA,NC_000008.11:85450776:ATATATATATA:ATATATATATATATATATA,NC_000008.11:85450776:ATATATATATA:ATATATATATATATATATATA
Gene:: CA3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.1923/115 (NorthernSweden)
HGVS:: NC_000008.11:g.85450778TA[2], NC_000008.11:g.85450778TA[4], NC_000008.11:g.85450778TA[6], NC_000008.11:g.85450778TA[7], NC_000008.11:g.85450778TA[8], NC_000008.11:g.85450778TA[9], NC_000008.11:g.85450778TA[10], NC_000008.10:g.86363007TA[2], NC_000008.10:g.86363007TA[4], NC_000008.10:g.86363007TA[6], NC_000008.10:g.86363007TA[7], NC_000008.10:g.86363007TA[8], NC_000008.10:g.86363007TA[9], NC_000008.10:g.86363007TA[10]

Select item 14910755498.

rs1491075549 has merged into rs35379362 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:85455129 (GRCh38)
8:86367358 (GRCh37)
Canonical SPDI:: NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85455119:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CA3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.261382/1309 (1000Genomes)
HGVS:: NC_000008.11:g.85455129_85455139del, NC_000008.11:g.85455130_85455139del, NC_000008.11:g.85455131_85455139del, NC_000008.11:g.85455133_85455139del, NC_000008.11:g.85455135_85455139del, NC_000008.11:g.85455136_85455139del, NC_000008.11:g.85455137_85455139del, NC_000008.11:g.85455138_85455139del, NC_000008.11:g.85455139del, NC_000008.11:g.85455139dup, NC_000008.11:g.85455138_85455139dup, NC_000008.11:g.85455137_85455139dup, NC_000008.11:g.85455136_85455139dup, NC_000008.11:g.85455135_85455139dup, NC_000008.11:g.85455134_85455139dup, NC_000008.11:g.85455133_85455139dup, NC_000008.11:g.85455132_85455139dup, NC_000008.11:g.85455131_85455139dup, NC_000008.11:g.85455139_85455140insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86367358_86367368del, NC_000008.10:g.86367359_86367368del, NC_000008.10:g.86367360_86367368del, NC_000008.10:g.86367362_86367368del, NC_000008.10:g.86367364_86367368del, NC_000008.10:g.86367365_86367368del, NC_000008.10:g.86367366_86367368del, NC_000008.10:g.86367367_86367368del, NC_000008.10:g.86367368del, NC_000008.10:g.86367368dup, NC_000008.10:g.86367367_86367368dup, NC_000008.10:g.86367366_86367368dup, NC_000008.10:g.86367365_86367368dup, NC_000008.10:g.86367364_86367368dup, NC_000008.10:g.86367363_86367368dup, NC_000008.10:g.86367362_86367368dup, NC_000008.10:g.86367361_86367368dup, NC_000008.10:g.86367360_86367368dup, NC_000008.10:g.86367368_86367369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910676139.

rs1491067613 has merged into rs766933947 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 8:85445524 (GRCh38)
8:86357753 (GRCh37)
Canonical SPDI:: NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000008.11:85445503:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: CA3 (Varview), CA3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000008.11:g.85445504AC[10], NC_000008.11:g.85445504AC[11], NC_000008.11:g.85445504AC[12], NC_000008.11:g.85445504AC[13], NC_000008.11:g.85445504AC[14], NC_000008.11:g.85445504AC[15], NC_000008.11:g.85445504AC[16], NC_000008.11:g.85445504AC[17], NC_000008.11:g.85445504AC[18], NC_000008.11:g.85445504AC[19], NC_000008.11:g.85445504AC[20], NC_000008.11:g.85445504AC[22], NC_000008.11:g.85445504AC[23], NC_000008.11:g.85445504AC[24], NC_000008.11:g.85445504AC[25], NC_000008.11:g.85445504AC[26], NC_000008.11:g.85445504AC[27], NC_000008.10:g.86357733AC[10], NC_000008.10:g.86357733AC[11], NC_000008.10:g.86357733AC[12], NC_000008.10:g.86357733AC[13], NC_000008.10:g.86357733AC[14], NC_000008.10:g.86357733AC[15], NC_000008.10:g.86357733AC[16], NC_000008.10:g.86357733AC[17], NC_000008.10:g.86357733AC[18], NC_000008.10:g.86357733AC[19], NC_000008.10:g.86357733AC[20], NC_000008.10:g.86357733AC[22], NC_000008.10:g.86357733AC[23], NC_000008.10:g.86357733AC[24], NC_000008.10:g.86357733AC[25], NC_000008.10:g.86357733AC[26], NC_000008.10:g.86357733AC[27]

Select item 149099653310.

rs1490996533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:85463761 (GRCh38)
8:86375990 (GRCh37)
Canonical SPDI:: NC_000008.11:85463760:G:A
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000009/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.85463761G>A, NC_000008.10:g.86375990G>A, NG_007287.1:g.4745G>A

Select item 149090289811.

rs1490902898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:85446929 (GRCh38)
8:86359158 (GRCh37)
Canonical SPDI:: NC_000008.11:85446928:G:A
Gene:: CA3 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.85446929G>A, NC_000008.10:g.86359158G>A

Select item 149065595112.

rs1490655951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85453842 (GRCh38)
8:86366071 (GRCh37)
Canonical SPDI:: NC_000008.11:85453841:A:G
Gene:: CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.85453842A>G, NC_000008.10:g.86366071A>G

Select item 149063074413.

rs1490630744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85455073 (GRCh38)
8:86367302 (GRCh37)
Canonical SPDI:: NC_000008.11:85455072:A:G
Gene:: CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.85455073A>G, NC_000008.10:g.86367302A>G

Select item 149044793714.

rs1490447937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:85445682 (GRCh38)
8:86357911 (GRCh37)
Canonical SPDI:: NC_000008.11:85445681:C:T
Gene:: CA3 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.85445682C>T, NC_000008.10:g.86357911C>T

Select item 149037480015.

rs1490374800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:85456025 (GRCh38)
8:86368254 (GRCh37)
Canonical SPDI:: NC_000008.11:85456024:C:G
Gene:: CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85456025C>G, NC_000008.10:g.86368254C>G

Select item 149018078016.

rs1490180780 [Homo sapiens]

Variant type:: DEL
Alleles:: TCGTATC>- [Show Flanks]
Chromosome:: 8:85463395 (GRCh38)
8:86375624 (GRCh37)
Canonical SPDI:: NC_000008.11:85463394:TCGTATC:
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.85463395_85463401del, NC_000008.10:g.86375624_86375630del, NG_007287.1:g.4379_4385del

Select item 148993544917.

rs1489935449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:85464095 (GRCh38)
8:86376324 (GRCh37)
Canonical SPDI:: NC_000008.11:85464094:G:T
Gene:: CA2 (Varview), CA3-AS1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.85464095G>T, NC_000008.10:g.86376324G>T, NG_007287.1:g.5079G>T, NM_000067.3:c.14G>T, NM_000067.2:c.14G>T, NM_001293675.2:c.-171G>T, NM_001293675.1:c.-171G>T, NP_000058.1:p.Trp5Leu

Select item 148992343818.

rs1489923438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:85445780 (GRCh38)
8:86358009 (GRCh37)
Canonical SPDI:: NC_000008.11:85445779:C:G
Gene:: CA3 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000008.11:g.85445780C>G, NC_000008.10:g.86358009C>G

Select item 148991981019.

rs1489919810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85445150 (GRCh38)
8:86357379 (GRCh37)
Canonical SPDI:: NC_000008.11:85445149:T:C
Gene:: CA3 (Varview), CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85445150T>C, NC_000008.10:g.86357379T>C

Select item 148982971620.

rs1489829716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:85453313 (GRCh38)
8:86365542 (GRCh37)
Canonical SPDI:: NC_000008.11:85453312:C:T
Gene:: CA3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000637/11 (TOMMO)
HGVS:: NC_000008.11:g.85453313C>T, NC_000008.10:g.86365542C>T

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