SNP Links for Gene (Select 389152) - SNP

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Select item 14913522471.

rs1491352247 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:139044496 (GRCh38)
3:138763338 (GRCh37)
Canonical SPDI:: NC_000003.12:139044493:GCGC:GC
Gene:: PRR23C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.139044494GC[1], NC_000003.11:g.138763336GC[1], NM_001134657.1:c.126_127del, NM_001004315.1:c.126_127del, NP_001128129.1:p.Pro43fs

Select item 14912117882.

rs1491211788 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:139044494 (GRCh38)
3:138763337 (GRCh37)
Canonical SPDI:: NC_000003.12:139044494:C:CC
Gene:: PRR23C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.139044495dup, NC_000003.11:g.138763337dup, NM_001134657.1:c.126dup, NM_001004315.1:c.126dup, NP_001128129.1:p.Pro43fs

Select item 14903266313.

rs1490326631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139046781 (GRCh38)
3:138765623 (GRCh37)
Canonical SPDI:: NC_000003.12:139046780:C:T
Gene:: PRR23C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.139046781C>T, NC_000003.11:g.138765623C>T

Select item 14885816454.

rs1488581645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139044395 (GRCh38)
3:138763237 (GRCh37)
Canonical SPDI:: NC_000003.12:139044394:C:T
Gene:: PRR23C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.139044395C>T, NC_000003.11:g.138763237C>T, NM_001134657.1:c.226G>A, NM_001004315.1:c.226G>A, NP_001128129.1:p.Val76Ile

Select item 14878190035.

rs1487819003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139042584 (GRCh38)
3:138761426 (GRCh37)
Canonical SPDI:: NC_000003.12:139042583:T:C
Gene:: PRR23C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.139042584T>C, NC_000003.11:g.138761426T>C, NM_001134657.1:c.*1248A>G, NM_001004315.1:c.*1114A>G

Select item 14873691476.

rs1487369147 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14870032277.

rs1487003227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139043747 (GRCh38)
3:138762589 (GRCh37)
Canonical SPDI:: NC_000003.12:139043746:G:A
Gene:: PRR23C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139043747G>A, NC_000003.11:g.138762589G>A, NM_001134657.1:c.*85C>T, NM_001004315.1:c.*85C>T

Select item 14863725638.

rs1486372563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:139044296 (GRCh38)
3:138763138 (GRCh37)
Canonical SPDI:: NC_000003.12:139044295:C:G,NC_000003.12:139044295:C:T
Gene:: PRR23C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139044296C>G, NC_000003.12:g.139044296C>T, NC_000003.11:g.138763138C>G, NC_000003.11:g.138763138C>T, NM_001134657.1:c.325G>C, NM_001134657.1:c.325G>A, NM_001004315.1:c.325G>C, NM_001004315.1:c.325G>A, NP_001128129.1:p.Asp109His, NP_001128129.1:p.Asp109Asn

Select item 14849412319.

rs1484941231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:139043791 (GRCh38)
3:138762633 (GRCh37)
Canonical SPDI:: NC_000003.12:139043790:C:A
Gene:: PRR23C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.139043791C>A, NC_000003.11:g.138762633C>A, NM_001134657.1:c.*41G>T, NM_001004315.1:c.*41G>T

Select item 148451820710.

rs1484518207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139043989 (GRCh38)
3:138762831 (GRCh37)
Canonical SPDI:: NC_000003.12:139043988:G:A
Gene:: PRR23C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139043989G>A, NC_000003.11:g.138762831G>A, NM_001134657.1:c.632C>T, NM_001004315.1:c.632C>T, NP_001128129.1:p.Pro211Leu

Select item 148448310211.

rs1484483102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:139046464 (GRCh38)
3:138765306 (GRCh37)
Canonical SPDI:: NC_000003.12:139046463:G:C
Gene:: PRR23C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.139046464G>C, NC_000003.11:g.138765306G>C

Select item 148395905912.

rs1483959059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:139046429 (GRCh38)
3:138765271 (GRCh37)
Canonical SPDI:: NC_000003.12:139046428:G:T
Gene:: PRR23C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139046429G>T, NC_000003.11:g.138765271G>T

Select item 148386800813.

rs1483868008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139044448 (GRCh38)
3:138763290 (GRCh37)
Canonical SPDI:: NC_000003.12:139044447:G:A
Gene:: PRR23C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.139044448G>A, NC_000003.11:g.138763290G>A, NM_001134657.1:c.173C>T, NM_001004315.1:c.173C>T, NP_001128129.1:p.Thr58Ile

Select item 148309937614.

rs1483099376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:139043419 (GRCh38)
3:138762261 (GRCh37)
Canonical SPDI:: NC_000003.12:139043418:A:C
Gene:: PRR23C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139043419A>C, NC_000003.11:g.138762261A>C, NM_001134657.1:c.*413T>G, NM_001004315.1:c.*413T>G

Select item 148307555215.

rs1483075552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:139041609 (GRCh38)
3:138760451 (GRCh37)
Canonical SPDI:: NC_000003.12:139041608:A:G
Gene:: PRR23C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.139041609A>G, NC_000003.11:g.138760451A>G

Select item 148255676916.

rs1482556769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139042737 (GRCh38)
3:138761579 (GRCh37)
Canonical SPDI:: NC_000003.12:139042736:G:A
Gene:: PRR23C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139042737G>A, NC_000003.11:g.138761579G>A, NM_001134657.1:c.*1095C>T, NM_001004315.1:c.*961C>T

Select item 148222201417.

rs1482222014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:139044701 (GRCh38)
3:138763543 (GRCh37)
Canonical SPDI:: NC_000003.12:139044700:T:A
Gene:: PRR23C (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.139044701T>A, NC_000003.11:g.138763543T>A, NM_001134657.1:c.-81A>T, NM_001004315.1:c.-81A>T

Select item 148124569618.

rs1481245696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139046227 (GRCh38)
3:138765069 (GRCh37)
Canonical SPDI:: NC_000003.12:139046226:T:C
Gene:: PRR23C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139046227T>C, NC_000003.11:g.138765069T>C

Select item 148002859119.

rs1480028591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:139042455 (GRCh38)
3:138761297 (GRCh37)
Canonical SPDI:: NC_000003.12:139042454:A:C
Gene:: PRR23C (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.139042455A>C, NC_000003.11:g.138761297A>C, NM_001134657.1:c.*1377T>G, NM_001004315.1:c.*1243T>G

Select item 147910315720.

rs1479103157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:139041990 (GRCh38)
3:138760832 (GRCh37)
Canonical SPDI:: NC_000003.12:139041989:A:C,NC_000003.12:139041989:A:G
Gene:: PRR23C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.139041990A>C, NC_000003.12:g.139041990A>G, NC_000003.11:g.138760832A>C, NC_000003.11:g.138760832A>G

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