SNP Links for Gene (Select 100505715) - SNP

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Select item 14914946421.

rs1491494642 has merged into rs762625384 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:43901551 (GRCh38)
19:44405703 (GRCh37)
Canonical SPDI:: NC_000019.10:43901548:TCTC:TC
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
-=0.03993/23 (NorthernSweden)
-=0.06936/110 (Korea1K)
-=0.07848/1128 (TOMMO)
-=0.12025/19 (Vietnamese)
-=0.36592/4746 (GnomAD)
-=0.37972/1408 (TWINSUK)
HGVS:: NC_000019.10:g.43901549TC[1], NC_000019.9:g.44405701TC[1], NR_038334.1:n.252GA[1]

Select item 14911372992.

rs1491137299 has merged into rs57494145 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:43901574 (GRCh38)
19:44405726 (GRCh37)
Canonical SPDI:: NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACACACA=0./0 (ALFA)
-=0.1/5 (Vietnamese)
HGVS:: NC_000019.10:g.43901552CA[11], NC_000019.10:g.43901552CA[14], NC_000019.10:g.43901552CA[15], NC_000019.10:g.43901552CA[17], NC_000019.10:g.43901552CA[18], NC_000019.10:g.43901552CA[21], NC_000019.10:g.43901552CA[22], NC_000019.10:g.43901552CA[23], NC_000019.10:g.43901552CA[24], NC_000019.10:g.43901552CA[25], NC_000019.10:g.43901552CA[26], NC_000019.10:g.43901552CA[27], NC_000019.10:g.43901552CA[28], NC_000019.10:g.43901552CA[29], NC_000019.10:g.43901552CA[30], NC_000019.10:g.43901552CA[31], NC_000019.10:g.43901552CA[32], NC_000019.10:g.43901552CA[34], NC_000019.9:g.44405704CA[11], NC_000019.9:g.44405704CA[14], NC_000019.9:g.44405704CA[15], NC_000019.9:g.44405704CA[17], NC_000019.9:g.44405704CA[18], NC_000019.9:g.44405704CA[21], NC_000019.9:g.44405704CA[22], NC_000019.9:g.44405704CA[23], NC_000019.9:g.44405704CA[24], NC_000019.9:g.44405704CA[25], NC_000019.9:g.44405704CA[26], NC_000019.9:g.44405704CA[27], NC_000019.9:g.44405704CA[28], NC_000019.9:g.44405704CA[29], NC_000019.9:g.44405704CA[30], NC_000019.9:g.44405704CA[31], NC_000019.9:g.44405704CA[32], NC_000019.9:g.44405704CA[34], NR_038334.1:n.221TG[11], NR_038334.1:n.221TG[14], NR_038334.1:n.221TG[15], NR_038334.1:n.221TG[17], NR_038334.1:n.221TG[18], NR_038334.1:n.221TG[21], NR_038334.1:n.221TG[22], NR_038334.1:n.221TG[23], NR_038334.1:n.221TG[24], NR_038334.1:n.221TG[25], NR_038334.1:n.221TG[26], NR_038334.1:n.221TG[27], NR_038334.1:n.221TG[28], NR_038334.1:n.221TG[29], NR_038334.1:n.221TG[30], NR_038334.1:n.221TG[31], NR_038334.1:n.221TG[32], NR_038334.1:n.221TG[34]

Select item 14905968723.

rs1490596872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43902433 (GRCh38)
19:44406585 (GRCh37)
Canonical SPDI:: NC_000019.10:43902432:T:A
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43902433T>A, NC_000019.9:g.44406585T>A

Select item 14901056354.

rs1490105635 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:43901925 (GRCh38)
19:44406077 (GRCh37)
Canonical SPDI:: NC_000019.10:43901924:GGG:GG
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43901927del, NC_000019.9:g.44406079del, XR_005228010.2:n.62del, XR_005228010.1:n.56del, XR_005228009.2:n.62del, XR_005228009.1:n.17del, XR_005228008.2:n.62del, XR_005228008.1:n.17del, XR_005228006.2:n.62del, XR_005228006.1:n.56del, XR_005228004.2:n.62del, XR_005228004.1:n.56del, XR_005228011.2:n.62del, XR_005228011.1:n.17del

Select item 14897907235.

rs1489790723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43902574 (GRCh38)
19:44406726 (GRCh37)
Canonical SPDI:: NC_000019.10:43902573:A:G
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.43902574A>G, NC_000019.9:g.44406726A>G

Select item 14895334256.

rs1489533425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43892950 (GRCh38)
19:44397102 (GRCh37)
Canonical SPDI:: NC_000019.10:43892949:T:G
Gene:: LOC100505715 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43892950T>G, NC_000019.9:g.44397102T>G, NR_038334.1:n.1045A>C

Select item 14895068217.

rs1489506821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43891963 (GRCh38)
19:44396115 (GRCh37)
Canonical SPDI:: NC_000019.10:43891962:A:G
Gene:: LOC100505715 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43891963A>G, NC_000019.9:g.44396115A>G, NR_038334.1:n.2032T>C

Select item 14894355538.

rs1489435553 has merged into rs57494145 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:43901574 (GRCh38)
19:44405726 (GRCh37)
Canonical SPDI:: NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:43901551:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACACACA=0./0 (ALFA)
-=0.1/5 (Vietnamese)
HGVS:: NC_000019.10:g.43901552CA[11], NC_000019.10:g.43901552CA[14], NC_000019.10:g.43901552CA[15], NC_000019.10:g.43901552CA[17], NC_000019.10:g.43901552CA[18], NC_000019.10:g.43901552CA[21], NC_000019.10:g.43901552CA[22], NC_000019.10:g.43901552CA[23], NC_000019.10:g.43901552CA[24], NC_000019.10:g.43901552CA[25], NC_000019.10:g.43901552CA[26], NC_000019.10:g.43901552CA[27], NC_000019.10:g.43901552CA[28], NC_000019.10:g.43901552CA[29], NC_000019.10:g.43901552CA[30], NC_000019.10:g.43901552CA[31], NC_000019.10:g.43901552CA[32], NC_000019.10:g.43901552CA[34], NC_000019.9:g.44405704CA[11], NC_000019.9:g.44405704CA[14], NC_000019.9:g.44405704CA[15], NC_000019.9:g.44405704CA[17], NC_000019.9:g.44405704CA[18], NC_000019.9:g.44405704CA[21], NC_000019.9:g.44405704CA[22], NC_000019.9:g.44405704CA[23], NC_000019.9:g.44405704CA[24], NC_000019.9:g.44405704CA[25], NC_000019.9:g.44405704CA[26], NC_000019.9:g.44405704CA[27], NC_000019.9:g.44405704CA[28], NC_000019.9:g.44405704CA[29], NC_000019.9:g.44405704CA[30], NC_000019.9:g.44405704CA[31], NC_000019.9:g.44405704CA[32], NC_000019.9:g.44405704CA[34], NR_038334.1:n.221TG[11], NR_038334.1:n.221TG[14], NR_038334.1:n.221TG[15], NR_038334.1:n.221TG[17], NR_038334.1:n.221TG[18], NR_038334.1:n.221TG[21], NR_038334.1:n.221TG[22], NR_038334.1:n.221TG[23], NR_038334.1:n.221TG[24], NR_038334.1:n.221TG[25], NR_038334.1:n.221TG[26], NR_038334.1:n.221TG[27], NR_038334.1:n.221TG[28], NR_038334.1:n.221TG[29], NR_038334.1:n.221TG[30], NR_038334.1:n.221TG[31], NR_038334.1:n.221TG[32], NR_038334.1:n.221TG[34]

Select item 14894088929.

rs1489408892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43901717 (GRCh38)
19:44405869 (GRCh37)
Canonical SPDI:: NC_000019.10:43901716:C:G
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.43901717C>G, NC_000019.9:g.44405869C>G, NR_038334.1:n.87G>C

Select item 148926221510.

rs1489262215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43893362 (GRCh38)
19:44397514 (GRCh37)
Canonical SPDI:: NC_000019.10:43893361:G:A
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43893362G>A, NC_000019.9:g.44397514G>A

Select item 148882045511.

rs1488820455 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:43900518 (GRCh38)
19:44404670 (GRCh37)
Canonical SPDI:: NC_000019.10:43900517:G:
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.43900518del, NC_000019.9:g.44404670del

Select item 148876986012.

rs1488769860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43899289 (GRCh38)
19:44403441 (GRCh37)
Canonical SPDI:: NC_000019.10:43899288:A:G
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.43899289A>G, NC_000019.9:g.44403441A>G

Select item 148830778413.

rs1488307784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43898823 (GRCh38)
19:44402975 (GRCh37)
Canonical SPDI:: NC_000019.10:43898822:T:C
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43898823T>C, NC_000019.9:g.44402975T>C

Select item 148782471314.

rs1487824713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43900213 (GRCh38)
19:44404365 (GRCh37)
Canonical SPDI:: NC_000019.10:43900212:T:A
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000895/4 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000019.10:g.43900213T>A, NC_000019.9:g.44404365T>A

Select item 148737490015.

rs1487374900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:43899429 (GRCh38)
19:44403581 (GRCh37)
Canonical SPDI:: NC_000019.10:43899428:A:C,NC_000019.10:43899428:A:G
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43899429A>C, NC_000019.10:g.43899429A>G, NC_000019.9:g.44403581A>C, NC_000019.9:g.44403581A>G

Select item 148706514516.

rs1487065145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43902534 (GRCh38)
19:44406686 (GRCh37)
Canonical SPDI:: NC_000019.10:43902533:C:T
Gene:: LOC100505715 (Varview), ZNF45-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.43902534C>T, NC_000019.9:g.44406686C>T

Select item 148686042617.

rs1486860426 has merged into rs373426657 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43899367 (GRCh38)
19:44403519 (GRCh37)
Canonical SPDI:: NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43899357:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000019.10:g.43899367_43899380del, NC_000019.10:g.43899368_43899380del, NC_000019.10:g.43899369_43899380del, NC_000019.10:g.43899370_43899380del, NC_000019.10:g.43899373_43899380del, NC_000019.10:g.43899374_43899380del, NC_000019.10:g.43899377_43899380del, NC_000019.10:g.43899378_43899380del, NC_000019.10:g.43899379_43899380del, NC_000019.10:g.43899380del, NC_000019.10:g.43899380dup, NC_000019.10:g.43899379_43899380dup, NC_000019.10:g.43899378_43899380dup, NC_000019.10:g.43899377_43899380dup, NC_000019.10:g.43899376_43899380dup, NC_000019.10:g.43899375_43899380dup, NC_000019.10:g.43899374_43899380dup, NC_000019.10:g.43899373_43899380dup, NC_000019.9:g.44403519_44403532del, NC_000019.9:g.44403520_44403532del, NC_000019.9:g.44403521_44403532del, NC_000019.9:g.44403522_44403532del, NC_000019.9:g.44403525_44403532del, NC_000019.9:g.44403526_44403532del, NC_000019.9:g.44403529_44403532del, NC_000019.9:g.44403530_44403532del, NC_000019.9:g.44403531_44403532del, NC_000019.9:g.44403532del, NC_000019.9:g.44403532dup, NC_000019.9:g.44403531_44403532dup, NC_000019.9:g.44403530_44403532dup, NC_000019.9:g.44403529_44403532dup, NC_000019.9:g.44403528_44403532dup, NC_000019.9:g.44403527_44403532dup, NC_000019.9:g.44403526_44403532dup, NC_000019.9:g.44403525_44403532dup

Select item 148681084418.

rs1486810844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43897996 (GRCh38)
19:44402148 (GRCh37)
Canonical SPDI:: NC_000019.10:43897995:T:G
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.43897996T>G, NC_000019.9:g.44402148T>G

Select item 148634539119.

rs1486345391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43897522 (GRCh38)
19:44401674 (GRCh37)
Canonical SPDI:: NC_000019.10:43897521:G:A
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.43897522G>A, NC_000019.9:g.44401674G>A

Select item 148623015020.

rs1486230150 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:43897067 (GRCh38)
19:44401219 (GRCh37)
Canonical SPDI:: NC_000019.10:43897066:AA:
Gene:: LOC100505715 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43897067_43897068del, NC_000019.9:g.44401219_44401220del

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