SNP Links for Gene (Select 101928048) - SNP

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Select item 14903846901.

rs1490384690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:60469560 (GRCh38)
20:59044618 (GRCh37)
Canonical SPDI:: NC_000020.11:60469559:C:A,NC_000020.11:60469559:C:G
Gene:: LOC101928048 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.60469560C>A, NC_000020.11:g.60469560C>G, NC_000020.10:g.59044618C>A, NC_000020.10:g.59044618C>G

Select item 14898430782.

rs1489843078 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGTGGGGGGCGGG>- [Show Flanks]
Chromosome:: 20:60473035 (GRCh38)
20:59048093 (GRCh37)
Canonical SPDI:: NC_000020.11:60473026:GGGGCGGGCGGTGGGGGGCGGG:GGGGCGGG
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGCGGG=0.00067/8 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00031/2 (1000Genomes)
-=0.01788/30 (GnomAD)
HGVS:: NC_000020.11:g.60473035_60473048del, NC_000020.10:g.59048093_59048106del

Select item 14894015113.

rs1489401511 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATCT [Show Flanks]
Chromosome:: 20:60473306 (GRCh38)
20:59048365 (GRCh37)
Canonical SPDI:: NC_000020.11:60473306::ATCT
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATCT=0./0 (ALFA)
ATCT=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.60473306_60473307insATCT, NC_000020.10:g.59048364_59048365insATCT, XR_007067682.1:n.177_178insATCT, XR_007067681.1:n.177_178insATCT, XR_007067683.1:n.177_178insATCT

Select item 14893965944.

rs1489396594 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 20:60471027 (GRCh38)
20:59046086 (GRCh37)
Canonical SPDI:: NC_000020.11:60471027:CTT:CTTCTT
Gene:: LOC101928048 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.60471028_60471030dup, NC_000020.10:g.59046086_59046088dup

Select item 14873485225.

rs1487348522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:60470978 (GRCh38)
20:59046036 (GRCh37)
Canonical SPDI:: NC_000020.11:60470977:C:G,NC_000020.11:60470977:C:T
Gene:: LOC101928048 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.60470978C>G, NC_000020.11:g.60470978C>T, NC_000020.10:g.59046036C>G, NC_000020.10:g.59046036C>T

Select item 14861270206.

rs1486127020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:60471001 (GRCh38)
20:59046059 (GRCh37)
Canonical SPDI:: NC_000020.11:60471000:T:C
Gene:: LOC101928048 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.60471001T>C, NC_000020.10:g.59046059T>C

Select item 14861065767.

rs1486106576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:60470637 (GRCh38)
20:59045695 (GRCh37)
Canonical SPDI:: NC_000020.11:60470636:C:T
Gene:: LOC101928048 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000020.11:g.60470637C>T, NC_000020.10:g.59045695C>T

Select item 14859051398.

rs1485905139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:60473888 (GRCh38)
20:59048946 (GRCh37)
Canonical SPDI:: NC_000020.11:60473887:C:G
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.60473888C>G, NC_000020.10:g.59048946C>G, XR_007067682.1:n.759C>G, XR_007067681.1:n.759C>G

Select item 14857536779.

rs1485753677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:60470042 (GRCh38)
20:59045100 (GRCh37)
Canonical SPDI:: NC_000020.11:60470041:T:C
Gene:: LOC101928048 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.60470042T>C, NC_000020.10:g.59045100T>C

Select item 148504492010.

rs1485044920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:60472341 (GRCh38)
20:59047399 (GRCh37)
Canonical SPDI:: NC_000020.11:60472340:C:T
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.60472341C>T, NC_000020.10:g.59047399C>T

Select item 148435685111.

rs1484356851 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:60474226 (GRCh38)
20:59049285 (GRCh37)
Canonical SPDI:: NC_000020.11:60474226:TT:TTT
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.60474228dup, NC_000020.10:g.59049286dup

Select item 148432843512.

rs1484328435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:60472894 (GRCh38)
20:59047952 (GRCh37)
Canonical SPDI:: NC_000020.11:60472893:A:G
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.60472894A>G, NC_000020.10:g.59047952A>G

Select item 148287375913.

rs1482873759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:60473500 (GRCh38)
20:59048558 (GRCh37)
Canonical SPDI:: NC_000020.11:60473499:G:A
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.60473500G>A, NC_000020.10:g.59048558G>A, XR_007067682.1:n.371G>A, XR_007067681.1:n.371G>A

Select item 148282133214.

rs1482821332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:60474570 (GRCh38)
20:59049628 (GRCh37)
Canonical SPDI:: NC_000020.11:60474569:A:G
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.60474570A>G, NC_000020.10:g.59049628A>G, XR_007067682.1:n.988A>G

Select item 148184207115.

rs1481842071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:60474120 (GRCh38)
20:59049178 (GRCh37)
Canonical SPDI:: NC_000020.11:60474119:G:A
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.60474120G>A, NC_000020.10:g.59049178G>A

Select item 148134665216.

rs1481346652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:60470474 (GRCh38)
20:59045532 (GRCh37)
Canonical SPDI:: NC_000020.11:60470473:G:C,NC_000020.11:60470473:G:T
Gene:: LOC101928048 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.60470474G>C, NC_000020.11:g.60470474G>T, NC_000020.10:g.59045532G>C, NC_000020.10:g.59045532G>T

Select item 148104882517.

rs1481048825 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:60473621 (GRCh38)
20:59048679 (GRCh37)
Canonical SPDI:: NC_000020.11:60473620:A:G
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.60473621A>G, NC_000020.10:g.59048679A>G, XR_007067682.1:n.492A>G, XR_007067681.1:n.492A>G

Select item 148102778118.

rs1481027781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:60471711 (GRCh38)
20:59046769 (GRCh37)
Canonical SPDI:: NC_000020.11:60471710:T:C
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.60471711T>C, NC_000020.10:g.59046769T>C

Select item 148055358719.

rs1480553587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:60472762 (GRCh38)
20:59047820 (GRCh37)
Canonical SPDI:: NC_000020.11:60472761:T:C
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.60472762T>C, NC_000020.10:g.59047820T>C

Select item 147949696420.

rs1479496964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:60474553 (GRCh38)
20:59049611 (GRCh37)
Canonical SPDI:: NC_000020.11:60474552:G:C
Gene:: LOC101928048 (Varview), LOC124904944 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.60474553G>C, NC_000020.10:g.59049611G>C, XR_007067682.1:n.971G>C

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