SNP Links for Gene (Select 5790) - SNP

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Select item 14906865881.

rs1490686588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:67438509 (GRCh38)
11:67205980 (GRCh37)
Canonical SPDI:: NC_000011.10:67438508:G:T
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.67438509G>T, NC_000011.9:g.67205980G>T

Select item 14901613942.

rs1490161394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAATAAGT>- [Show Flanks]
Chromosome:: 11:67436909 (GRCh38)
11:67204380 (GRCh37)
Canonical SPDI:: NC_000011.10:67436907:TCAATAAGT:T
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67436909_67436916del, NC_000011.9:g.67204380_67204387del, NM_001018070.3:c.*1461_*1468del, NM_020441.3:c.*1461_*1468del

Select item 14900217513.

rs1490021751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:67438794 (GRCh38)
11:67206265 (GRCh37)
Canonical SPDI:: NC_000011.10:67438793:G:A,NC_000011.10:67438793:G:T
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67438794G>A, NC_000011.10:g.67438794G>T, NC_000011.9:g.67206265G>A, NC_000011.9:g.67206265G>T, NM_001018070.3:c.1221C>T, NM_001018070.3:c.1221C>A, NM_001018070.2:c.1221C>T, NM_001018070.2:c.1221C>A, NM_020441.3:c.1221C>T, NM_020441.3:c.1221C>A, NM_020441.2:c.1221C>T, NM_020441.2:c.1221C>A, NP_001018080.1:p.Ser407Arg, NP_065174.1:p.Ser407Arg

Select item 14892158074.

rs1489215807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67439384 (GRCh38)
11:67206855 (GRCh37)
Canonical SPDI:: NC_000011.10:67439383:A:G
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.67439384A>G, NC_000011.9:g.67206855A>G

Select item 14886100315.

rs1488610031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:67438520 (GRCh38)
11:67205991 (GRCh37)
Canonical SPDI:: NC_000011.10:67438519:G:T
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67438520G>T, NC_000011.9:g.67205991G>T

Select item 14883044146.

rs1488304414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67436162 (GRCh38)
11:67203633 (GRCh37)
Canonical SPDI:: NC_000011.10:67436161:G:A
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67436162G>A, NC_000011.9:g.67203633G>A, NM_001018070.3:c.*2214C>T, NM_020441.3:c.*2214C>T, NM_005608.3:c.192C>T, NM_005608.2:c.192C>T

Select item 14878765977.

rs1487876597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:67437129 (GRCh38)
11:67204600 (GRCh37)
Canonical SPDI:: NC_000011.10:67437128:C:A,NC_000011.10:67437128:C:T
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.67437129C>A, NC_000011.10:g.67437129C>T, NC_000011.9:g.67204600C>A, NC_000011.9:g.67204600C>T, NM_001018070.3:c.*1247G>T, NM_001018070.3:c.*1247G>A, NM_020441.3:c.*1247G>T, NM_020441.3:c.*1247G>A

Select item 14875508628.

rs1487550862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:67438016 (GRCh38)
11:67205487 (GRCh37)
Canonical SPDI:: NC_000011.10:67438015:T:A
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.67438016T>A, NC_000011.9:g.67205487T>A, NM_001018070.3:c.*360A>T, NM_020441.3:c.*360A>T

Select item 14873760939.

rs1487376093 has merged into rs372968826 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCACAGG>- [Show Flanks]
Chromosome:: 11:67435500 (GRCh38)
11:67202971 (GRCh37)
Canonical SPDI:: NC_000011.10:67435496:AGGACCACAGG:AGG
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.67435500_67435507del, NC_000011.9:g.67202971_67202978del

Select item 148629178010.

rs1486291780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67435942 (GRCh38)
11:67203413 (GRCh37)
Canonical SPDI:: NC_000011.10:67435941:A:G
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000283/8 (TOMMO)
HGVS:: NC_000011.10:g.67435942A>G, NC_000011.9:g.67203413A>G, NM_001018070.3:c.*2434T>C, NM_020441.3:c.*2434T>C, NM_005608.3:c.412T>C, NM_005608.2:c.412T>C, NP_005599.1:p.Ser138Pro

Select item 148588641711.

rs1485886417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:67435586 (GRCh38)
11:67203057 (GRCh37)
Canonical SPDI:: NC_000011.10:67435585:G:T
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.67435586G>T, NC_000011.9:g.67203057G>T, NM_001018070.3:c.*2790C>A, NM_020441.3:c.*2790C>A, NM_005608.3:c.*147C>A, NM_005608.2:c.*147C>A

Select item 148432018912.

rs1484320189 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGCACTGGCTGTTCCCT>- [Show Flanks]
Chromosome:: 11:67436601 (GRCh38)
11:67204072 (GRCh37)
Canonical SPDI:: NC_000011.10:67436597:CCTTCGCACTGGCTGTTCCCT:CCT
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCT=0./0 (ALFA)
HGVS:: NC_000011.10:g.67436601_67436618del, NC_000011.9:g.67204072_67204089del, NM_001018070.3:c.*1761_*1778del, NM_020441.3:c.*1761_*1778del

Select item 148421898013.

rs1484218980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67435865 (GRCh38)
11:67203336 (GRCh37)
Canonical SPDI:: NC_000011.10:67435864:G:A
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.67435865G>A, NC_000011.9:g.67203336G>A, NM_001018070.3:c.*2511C>T, NM_020441.3:c.*2511C>T, NM_005608.3:c.489C>T, NM_005608.2:c.489C>T

Select item 148323996714.

rs1483239967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:67435304 (GRCh38)
11:67202775 (GRCh37)
Canonical SPDI:: NC_000011.10:67435303:T:C
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_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_000011.10:g.67435304T>C, NC_000011.9:g.67202775T>C, XM_006718656.4:c.*135T>C, XM_006718656.3:c.*135T>C, XM_006718656.2:c.*135T>C, XM_006718656.1:c.*135T>C, NM_003952.3:c.*135T>C, NM_003952.2:c.*135T>C, NM_001007071.1:c.*671T>C

Select item 148276130215.

rs1482761302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:67438958 (GRCh38)
11:67206429 (GRCh37)
Canonical SPDI:: NC_000011.10:67438957:G:A,NC_000011.10:67438957:G:C
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.67438958G>A, NC_000011.10:g.67438958G>C, NC_000011.9:g.67206429G>A, NC_000011.9:g.67206429G>C

Select item 148212853916.

rs1482128539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:67436243 (GRCh38)
11:67203714 (GRCh37)
Canonical SPDI:: NC_000011.10:67436242:G:A,NC_000011.10:67436242:G:C
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.67436243G>A, NC_000011.10:g.67436243G>C, NC_000011.9:g.67203714G>A, NC_000011.9:g.67203714G>C, NM_001018070.3:c.*2133C>T, NM_001018070.3:c.*2133C>G, NM_020441.3:c.*2133C>T, NM_020441.3:c.*2133C>G, NM_005608.3:c.111C>T, NM_005608.3:c.111C>G, NM_005608.2:c.111C>T, NM_005608.2:c.111C>G

Select item 148192538017.

rs1481925380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67435544 (GRCh38)
11:67203015 (GRCh37)
Canonical SPDI:: NC_000011.10:67435543:C:T
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_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_000011.10:g.67435544C>T, NC_000011.9:g.67203015C>T, NM_001018070.3:c.*2832G>A, NM_020441.3:c.*2832G>A, NM_005608.3:c.*189G>A, NM_005608.2:c.*189G>A

Select item 148126061818.

rs1481260618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67438970 (GRCh38)
11:67206441 (GRCh37)
Canonical SPDI:: NC_000011.10:67438969:G:A
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67438970G>A, NC_000011.9:g.67206441G>A

Select item 148106337719.

rs1481063377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67435450 (GRCh38)
11:67202921 (GRCh37)
Canonical SPDI:: NC_000011.10:67435449:G:C
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.67435450G>C, NC_000011.9:g.67202921G>C

Select item 148072734320.

rs1480727343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:67437589 (GRCh38)
11:67205060 (GRCh37)
Canonical SPDI:: NC_000011.10:67437588:C:G
Gene:: PTPRCAP (Varview), CORO1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67437589C>G, NC_000011.9:g.67205060C>G, NM_001018070.3:c.*787G>C, NM_020441.3:c.*787G>C

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