SNP Links for Gene (Select 340529) - SNP

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Select item 14910276891.

rs1491027689 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: X:73077753 (GRCh38)
X:72297592 (GRCh37)
Canonical SPDI:: NC_000023.11:73077751:CGC:C
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0016/19 (ALFA)
-=0.00005/1 (TOMMO)
-=0.00137/130 (GnomAD)
HGVS:: NC_000023.11:g.73077753_73077754del, NW_004070882.1:g.766770_766771del, NC_000023.10:g.72297592_72297593del, NM_001012977.3:c.*1031_*1032del, NM_001012977.2:c.*1031_*1032del

Select item 14906181902.

rs1490618190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:73077426 (GRCh38)
X:72297265 (GRCh37)
Canonical SPDI:: NC_000023.11:73077425:G:C
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.73077426G>C, NW_004070882.1:g.766443G>C, NC_000023.10:g.72297265G>C, NM_001012977.3:c.*1358C>G, NM_001012977.2:c.*1358C>G

Select item 14900654033.

rs1490065403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:73079843 (GRCh38)
X:72299682 (GRCh37)
Canonical SPDI:: NC_000023.11:73079842:A:C,NC_000023.11:73079842:A:G
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.09804/100 (KOREAN)
HGVS:: NC_000023.11:g.73079843A>C, NC_000023.11:g.73079843A>G, NW_004070882.1:g.768860A>C, NW_004070882.1:g.768860A>G, NC_000023.10:g.72299682A>C, NC_000023.10:g.72299682A>G

Select item 14894870184.

rs1489487018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:73078389 (GRCh38)
X:72298228 (GRCh37)
Canonical SPDI:: NC_000023.11:73078388:T:A
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.73078389T>A, NW_004070882.1:g.767406T>A, NC_000023.10:g.72298228T>A, NM_001012977.3:c.*395A>T, NM_001012977.2:c.*395A>T

Select item 14889661515.

rs1488966151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73079200 (GRCh38)
X:72299039 (GRCh37)
Canonical SPDI:: NC_000023.11:73079199:G:A
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00104/13 (TOMMO)
HGVS:: NC_000023.11:g.73079200G>A, NW_004070882.1:g.768217G>A, NC_000023.10:g.72299039G>A, NM_001012977.3:c.187C>T, NM_001012977.2:c.187C>T

Select item 14885145296.

rs1488514529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73079643 (GRCh38)
X:72299482 (GRCh37)
Canonical SPDI:: NC_000023.11:73079642:G:A
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.73079643G>A, NW_004070882.1:g.768660G>A, NC_000023.10:g.72299482G>A

Select item 14860518287.

rs1486051828 has merged into rs377158860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: X:73077737 (GRCh38)
X:72297576 (GRCh37)
Canonical SPDI:: NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAC=0./0 (ALFA)
ACACACAC=0.000136/36 (TOPMED)
-=0.086535/250 (ALSPAC)
AC=0.497219/1877 (1000Genomes)
HGVS:: NC_000023.11:g.73077723AC[7], NC_000023.11:g.73077723AC[10], NC_000023.11:g.73077723AC[11], NC_000023.11:g.73077723AC[12], NC_000023.11:g.73077723AC[13], NC_000023.11:g.73077723AC[14], NC_000023.11:g.73077723AC[16], NC_000023.11:g.73077723AC[17], NC_000023.11:g.73077723AC[18], NC_000023.11:g.73077723AC[19], NW_004070882.1:g.766740AC[7], NW_004070882.1:g.766740AC[10], NW_004070882.1:g.766740AC[11], NW_004070882.1:g.766740AC[12], NW_004070882.1:g.766740AC[13], NW_004070882.1:g.766740AC[14], NW_004070882.1:g.766740AC[16], NW_004070882.1:g.766740AC[17], NW_004070882.1:g.766740AC[18], NW_004070882.1:g.766740AC[19], NC_000023.10:g.72297562AC[7], NC_000023.10:g.72297562AC[10], NC_000023.10:g.72297562AC[11], NC_000023.10:g.72297562AC[12], NC_000023.10:g.72297562AC[13], NC_000023.10:g.72297562AC[14], NC_000023.10:g.72297562AC[16], NC_000023.10:g.72297562AC[17], NC_000023.10:g.72297562AC[18], NC_000023.10:g.72297562AC[19], NM_001012977.3:c.*1032GT[7], NM_001012977.3:c.*1032GT[10], NM_001012977.3:c.*1032GT[11], NM_001012977.3:c.*1032GT[12], NM_001012977.3:c.*1032GT[13], NM_001012977.3:c.*1032GT[14], NM_001012977.3:c.*1032GT[16], NM_001012977.3:c.*1032GT[17], NM_001012977.3:c.*1032GT[18], NM_001012977.3:c.*1032GT[19], NM_001012977.2:c.*1032GT[7], NM_001012977.2:c.*1032GT[10], NM_001012977.2:c.*1032GT[11], NM_001012977.2:c.*1032GT[12], NM_001012977.2:c.*1032GT[13], NM_001012977.2:c.*1032GT[14], NM_001012977.2:c.*1032GT[16], NM_001012977.2:c.*1032GT[17], NM_001012977.2:c.*1032GT[18], NM_001012977.2:c.*1032GT[19]

Select item 14852616138.

rs1485261613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:73077290 (GRCh38)
X:72297129 (GRCh37)
Canonical SPDI:: NC_000023.11:73077289:C:A
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.73077290C>A, NW_004070882.1:g.766307C>A, NC_000023.10:g.72297129C>A, NM_001012977.3:c.*1494G>T

Select item 14840989599.

rs1484098959 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCTCC>- [Show Flanks]
Chromosome:: X:73079523 (GRCh38)
X:72299362 (GRCh37)
Canonical SPDI:: NC_000023.11:73079513:TCCGCCTCCGCCTCC:TCCGCCTCC
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCGCCTCC=0.00008/1 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.73079517GCCTCC[1], NW_004070882.1:g.768534GCCTCC[1], NC_000023.10:g.72299356GCCTCC[1]

Select item 148095287110.

rs1480952871 has merged into rs1199374640 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: X:73077568 (GRCh38)
X:72297407 (GRCh37)
Canonical SPDI:: NC_000023.11:73077567:TTTTTTTTT:TTTTTTTT,NC_000023.11:73077567:TTTTTTTTT:TTTTTTTTTT,NC_000023.11:73077567:TTTTTTTTT:TTTTTTTTTTT
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.73077576del, NC_000023.11:g.73077576dup, NC_000023.11:g.73077575_73077576dup, NW_004070882.1:g.766593del, NW_004070882.1:g.766593dup, NW_004070882.1:g.766592_766593dup, NC_000023.10:g.72297415del, NC_000023.10:g.72297415dup, NC_000023.10:g.72297414_72297415dup, NM_001012977.3:c.*1216del, NM_001012977.3:c.*1216dup, NM_001012977.3:c.*1215_*1216dup, NM_001012977.2:c.*1216del, NM_001012977.2:c.*1216dup, NM_001012977.2:c.*1215_*1216dup

Select item 148033862611.

rs1480338626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73079451 (GRCh38)
X:72299290 (GRCh37)
Canonical SPDI:: NC_000023.11:73079450:G:A
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.73079451G>A, NW_004070882.1:g.768468G>A, NC_000023.10:g.72299290G>A, NM_001012977.3:c.-65C>T, NM_001012977.2:c.-65C>T

Select item 147997047712.

rs1479970477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:73077878 (GRCh38)
X:72297717 (GRCh37)
Canonical SPDI:: NC_000023.11:73077877:G:C
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.73077878G>C, NW_004070882.1:g.766895G>C, NC_000023.10:g.72297717G>C, NM_001012977.3:c.*906C>G, NM_001012977.2:c.*906C>G

Select item 147898764413.

rs1478987644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:73079179 (GRCh38)
X:72299018 (GRCh37)
Canonical SPDI:: NC_000023.11:73079178:C:A
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.73079179C>A, NW_004070882.1:g.768196C>A, NC_000023.10:g.72299018C>A, NM_001012977.3:c.208G>T, NM_001012977.2:c.208G>T, NP_001012995.1:p.Gly70Cys

Select item 147801458914.

rs1478014589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:73079804 (GRCh38)
X:72299643 (GRCh37)
Canonical SPDI:: NC_000023.11:73079803:T:C
Gene:: PABPC1L2A (Varview), LOC101928380 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.73079804T>C, NW_004070882.1:g.768821T>C, NC_000023.10:g.72299643T>C

Select item 147671358215.

rs1476713582 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:73077416 (GRCh38)
X:72297255 (GRCh37)
Canonical SPDI:: NC_000023.11:73077415:AAAAAAA:AAAAAA
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.73077422del, NW_004070882.1:g.766439del, NC_000023.10:g.72297261del, NM_001012977.3:c.*1368del, NM_001012977.2:c.*1368del

Select item 147146059916.

rs1471460599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:73076959 (GRCh38)
X:72296798 (GRCh37)
Canonical SPDI:: NC_000023.11:73076958:A:G
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.73076959A>G, NW_004070882.1:g.765976A>G, NC_000023.10:g.72296798A>G

Select item 147104018917.

rs1471040189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73077143 (GRCh38)
X:72296982 (GRCh37)
Canonical SPDI:: NC_000023.11:73077142:G:A
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000106/28 (TOPMED)
A=0.000154/16 (GnomAD)
HGVS:: NC_000023.11:g.73077143G>A, NW_004070882.1:g.766160G>A, NC_000023.10:g.72296982G>A

Select item 146936816018.

rs1469368160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:73076935 (GRCh38)
X:72296774 (GRCh37)
Canonical SPDI:: NC_000023.11:73076934:A:G
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.73076935A>G, NW_004070882.1:g.765952A>G, NC_000023.10:g.72296774A>G

Select item 146928010319.

rs1469280103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73078036 (GRCh38)
X:72297875 (GRCh37)
Canonical SPDI:: NC_000023.11:73078035:G:A
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.73078036G>A, NW_004070882.1:g.767053G>A, NC_000023.10:g.72297875G>A, NM_001012977.3:c.*748C>T, NM_001012977.2:c.*748C>T

Select item 146842006320.

rs1468420063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:73078042 (GRCh38)
X:72297881 (GRCh37)
Canonical SPDI:: NC_000023.11:73078041:G:C,NC_000023.11:73078041:G:T
Gene:: PABPC1L2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.73078042G>C, NC_000023.11:g.73078042G>T, NW_004070882.1:g.767059G>C, NW_004070882.1:g.767059G>T, NC_000023.10:g.72297881G>C, NC_000023.10:g.72297881G>T, NM_001012977.3:c.*742C>G, NM_001012977.3:c.*742C>A, NM_001012977.2:c.*742C>G, NM_001012977.2:c.*742C>A

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