SNP Links for Gene (Select 339779) - SNP

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Select item 14910226501.

rs1491022650 has merged into rs11450307 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:27136472 (GRCh38)
2:27359340 (GRCh37)
Canonical SPDI:: NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27136463:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PREB (Varview), PRR30 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.27136472_27136483del, NC_000002.12:g.27136474_27136483del, NC_000002.12:g.27136476_27136483del, NC_000002.12:g.27136481_27136483del, NC_000002.12:g.27136482_27136483del, NC_000002.12:g.27136483del, NC_000002.12:g.27136483dup, NC_000002.12:g.27136482_27136483dup, NC_000002.12:g.27136481_27136483dup, NC_000002.12:g.27136480_27136483dup, NC_000002.12:g.27136479_27136483dup, NC_000002.12:g.27136478_27136483dup, NC_000002.12:g.27136477_27136483dup, NC_000002.12:g.27136476_27136483dup, NC_000002.12:g.27136475_27136483dup, NC_000002.12:g.27136474_27136483dup, NC_000002.12:g.27136483_27136484insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27359340_27359351del, NC_000002.11:g.27359342_27359351del, NC_000002.11:g.27359344_27359351del, NC_000002.11:g.27359349_27359351del, NC_000002.11:g.27359350_27359351del, NC_000002.11:g.27359351del, NC_000002.11:g.27359351dup, NC_000002.11:g.27359350_27359351dup, NC_000002.11:g.27359349_27359351dup, NC_000002.11:g.27359348_27359351dup, NC_000002.11:g.27359347_27359351dup, NC_000002.11:g.27359346_27359351dup, NC_000002.11:g.27359345_27359351dup, NC_000002.11:g.27359344_27359351dup, NC_000002.11:g.27359343_27359351dup, NC_000002.11:g.27359342_27359351dup, NC_000002.11:g.27359351_27359352insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909755192.

rs1490975519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27140792 (GRCh38)
2:27363660 (GRCh37)
Canonical SPDI:: NC_000002.12:27140791:T:C
Gene:: PRR30 (Varview)
Functional Consequence:: 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_000002.12:g.27140792T>C, NC_000002.11:g.27363660T>C

Select item 14904854033.

rs1490485403 has merged into rs34538591 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:27141299 (GRCh38)
2:27364167 (GRCh37)
Canonical SPDI:: NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27141287:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PRR30 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0.0012/8 (ALFA)
-=0.4/16 (GENOME_DK)
T=0.4724/2366 (1000Genomes)
HGVS:: NC_000002.12:g.27141299_27141303del, NC_000002.12:g.27141300_27141303del, NC_000002.12:g.27141301_27141303del, NC_000002.12:g.27141302_27141303del, NC_000002.12:g.27141303del, NC_000002.12:g.27141303dup, NC_000002.12:g.27141302_27141303dup, NC_000002.12:g.27141301_27141303dup, NC_000002.11:g.27364167_27364171del, NC_000002.11:g.27364168_27364171del, NC_000002.11:g.27364169_27364171del, NC_000002.11:g.27364170_27364171del, NC_000002.11:g.27364171del, NC_000002.11:g.27364171dup, NC_000002.11:g.27364170_27364171dup, NC_000002.11:g.27364169_27364171dup

Select item 14902353794.

rs1490235379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27136911 (GRCh38)
2:27359779 (GRCh37)
Canonical SPDI:: NC_000002.12:27136910:C:T
Gene:: PRR30 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.27136911C>T, NC_000002.11:g.27359779C>T, NM_178553.4:c.*180G>A, NM_178553.3:c.*180G>A

Select item 14889927205.

rs1488992720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27138900 (GRCh38)
2:27361768 (GRCh37)
Canonical SPDI:: NC_000002.12:27138899:G:T
Gene:: PRR30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27138900G>T, NC_000002.11:g.27361768G>T

Select item 14878754966.

rs1487875496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27140771 (GRCh38)
2:27363639 (GRCh37)
Canonical SPDI:: NC_000002.12:27140770:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27140771G>A, NC_000002.11:g.27363639G>A

Select item 14872494487.

rs1487249448 [Homo sapiens]

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

Select item 14867406978.

rs1486740697 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:27140942 (GRCh38)
2:27363810 (GRCh37)
Canonical SPDI:: NC_000002.12:27140941:T:
Gene:: PRR30 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.27140942del, NC_000002.11:g.27363810del

Select item 14864184329.

rs1486418432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:27140954 (GRCh38)
2:27363822 (GRCh37)
Canonical SPDI:: NC_000002.12:27140953:A:T
Gene:: PRR30 (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_000002.12:g.27140954A>T, NC_000002.11:g.27363822A>T

Select item 148577222210.

rs1485772222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:27136872 (GRCh38)
2:27359740 (GRCh37)
Canonical SPDI:: NC_000002.12:27136871:A:C
Gene:: PRR30 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27136872A>C, NC_000002.11:g.27359740A>C, NM_178553.4:c.*219T>G, NM_178553.3:c.*219T>G

Select item 148573099311.

rs1485730993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27137341 (GRCh38)
2:27360209 (GRCh37)
Canonical SPDI:: NC_000002.12:27137340:G:T
Gene:: PRR30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27137341G>T, NC_000002.11:g.27360209G>T, NM_178553.4:c.989C>A, NM_178553.3:c.989C>A, NP_848648.2:p.Ala330Asp

Select item 148544540412.

rs1485445404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27137298 (GRCh38)
2:27360166 (GRCh37)
Canonical SPDI:: NC_000002.12:27137297:C:G
Gene:: PRR30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27137298C>G, NC_000002.11:g.27360166C>G, NM_178553.4:c.1032G>C, NM_178553.3:c.1032G>C, NP_848648.2:p.Gln344His

Select item 148466247213.

rs1484662472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27138758 (GRCh38)
2:27361626 (GRCh37)
Canonical SPDI:: NC_000002.12:27138757:A:G
Gene:: PRR30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27138758A>G, NC_000002.11:g.27361626A>G

Select item 148393505414.

rs1483935054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27136856 (GRCh38)
2:27359724 (GRCh37)
Canonical SPDI:: NC_000002.12:27136855:G:C
Gene:: PRR30 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27136856G>C, NC_000002.11:g.27359724G>C, NM_178553.4:c.*235C>G, NM_178553.3:c.*235C>G

Select item 148346628015.

rs1483466280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27138847 (GRCh38)
2:27361715 (GRCh37)
Canonical SPDI:: NC_000002.12:27138846:A:G
Gene:: PRR30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27138847A>G, NC_000002.11:g.27361715A>G

Select item 148313035416.

rs1483130354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27140052 (GRCh38)
2:27362920 (GRCh37)
Canonical SPDI:: NC_000002.12:27140051:C:T
Gene:: PRR30 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.27140052C>T, NC_000002.11:g.27362920C>T

Select item 148246130817.

rs1482461308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27136383 (GRCh38)
2:27359251 (GRCh37)
Canonical SPDI:: NC_000002.12:27136382:A:G
Gene:: PREB (Varview), PRR30 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000002.12:g.27136383A>G, NC_000002.11:g.27359251A>G

Select item 148242826518.

rs1482428265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27137005 (GRCh38)
2:27359873 (GRCh37)
Canonical SPDI:: NC_000002.12:27137004:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27137005G>A, NC_000002.11:g.27359873G>A, NM_178553.4:c.*86C>T, NM_178553.3:c.*86C>T

Select item 148079855719.

rs1480798557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27137550 (GRCh38)
2:27360418 (GRCh37)
Canonical SPDI:: NC_000002.12:27137549:G:A,NC_000002.12:27137549:G:C
Gene:: PRR30 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.27137550G>A, NC_000002.12:g.27137550G>C, NC_000002.11:g.27360418G>A, NC_000002.11:g.27360418G>C, NM_178553.4:c.780C>T, NM_178553.4:c.780C>G, NM_178553.3:c.780C>T, NM_178553.3:c.780C>G, NP_848648.2:p.Ser260Arg

Select item 148075806620.

rs1480758066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27141363 (GRCh38)
2:27364231 (GRCh37)
Canonical SPDI:: NC_000002.12:27141362:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: 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_000002.12:g.27141363G>A, NC_000002.11:g.27364231G>A

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