SNP Links for Gene (Select 100129845) - SNP

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Select item 14915871051.

rs1491587105 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 7:100591032 (GRCh38)
7:100188656 (GRCh37)
Canonical SPDI:: NC_000007.14:100591032::A,NC_000007.14:100591032::G
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.100591032_100591033insA, NC_000007.14:g.100591032_100591033insG, NC_000007.13:g.100188655_100188656insA, NC_000007.13:g.100188655_100188656insG

Select item 14913184522.

rs1491318452 has merged into rs930978218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:100591046 (GRCh38)
7:100188669 (GRCh37)
Canonical SPDI:: NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.100591046_100591055del, NC_000007.14:g.100591047_100591055del, NC_000007.14:g.100591048_100591055del, NC_000007.14:g.100591049_100591055del, NC_000007.14:g.100591050_100591055del, NC_000007.14:g.100591051_100591055del, NC_000007.14:g.100591052_100591055del, NC_000007.14:g.100591053_100591055del, NC_000007.14:g.100591054_100591055del, NC_000007.14:g.100591055del, NC_000007.14:g.100591055dup, NC_000007.14:g.100591054_100591055dup, NC_000007.14:g.100591053_100591055dup, NC_000007.14:g.100591052_100591055dup, NC_000007.14:g.100591051_100591055dup, NC_000007.14:g.100591050_100591055dup, NC_000007.14:g.100591049_100591055dup, NC_000007.14:g.100591048_100591055dup, NC_000007.14:g.100591047_100591055dup, NC_000007.14:g.100591046_100591055dup, NC_000007.14:g.100591045_100591055dup, NC_000007.14:g.100591044_100591055dup, NC_000007.14:g.100591043_100591055dup, NC_000007.14:g.100591040_100591055dup, NC_000007.14:g.100591039_100591055dup, NC_000007.14:g.100591038_100591055dup, NC_000007.14:g.100591033_100591055dup, NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100188669_100188678del, NC_000007.13:g.100188670_100188678del, NC_000007.13:g.100188671_100188678del, NC_000007.13:g.100188672_100188678del, NC_000007.13:g.100188673_100188678del, NC_000007.13:g.100188674_100188678del, NC_000007.13:g.100188675_100188678del, NC_000007.13:g.100188676_100188678del, NC_000007.13:g.100188677_100188678del, NC_000007.13:g.100188678del, NC_000007.13:g.100188678dup, NC_000007.13:g.100188677_100188678dup, NC_000007.13:g.100188676_100188678dup, NC_000007.13:g.100188675_100188678dup, NC_000007.13:g.100188674_100188678dup, NC_000007.13:g.100188673_100188678dup, NC_000007.13:g.100188672_100188678dup, NC_000007.13:g.100188671_100188678dup, NC_000007.13:g.100188670_100188678dup, NC_000007.13:g.100188669_100188678dup, NC_000007.13:g.100188668_100188678dup, NC_000007.13:g.100188667_100188678dup, NC_000007.13:g.100188666_100188678dup, NC_000007.13:g.100188663_100188678dup, NC_000007.13:g.100188662_100188678dup, NC_000007.13:g.100188661_100188678dup, NC_000007.13:g.100188656_100188678dup, NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14907680373.

rs1490768037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100602282 (GRCh38)
7:100199905 (GRCh37)
Canonical SPDI:: NC_000007.14:100602281:G:A,NC_000007.14:100602281:G:T
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100602282G>A, NC_000007.14:g.100602282G>T, NC_000007.13:g.100199905G>A, NC_000007.13:g.100199905G>T, NM_002593.3:c.-175G>A, NM_002593.3:c.-175G>T

Select item 14907470334.

rs1490747033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100591288 (GRCh38)
7:100188911 (GRCh37)
Canonical SPDI:: NC_000007.14:100591287:C:G,NC_000007.14:100591287:C:T
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
G=0.001092/2 (Korea1K)
HGVS:: NC_000007.14:g.100591288C>G, NC_000007.14:g.100591288C>T, NC_000007.13:g.100188911C>G, NC_000007.13:g.100188911C>T

Select item 14906911015.

rs1490691101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100593673 (GRCh38)
7:100191296 (GRCh37)
Canonical SPDI:: NC_000007.14:100593672:T:C
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.100593673T>C, NC_000007.13:g.100191296T>C

Select item 14905782286.

rs1490578228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100592922 (GRCh38)
7:100190545 (GRCh37)
Canonical SPDI:: NC_000007.14:100592921:A:G
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100592922A>G, NC_000007.13:g.100190545A>G, NM_012172.5:c.812A>G, NM_012172.4:c.812A>G, XM_005250259.5:c.812A>G, XM_005250259.4:c.812A>G, XM_005250259.3:c.812A>G, XM_005250259.2:c.812A>G, XM_005250259.1:c.812A>G, NM_033506.3:c.698A>G, NM_033506.2:c.698A>G, NM_001163499.2:c.662A>G, NM_001163499.1:c.662A>G, NR_038910.1:n.1657T>C, XM_047420182.1:c.698A>G, XM_011516022.1:c.713A>G, XM_047420183.1:c.194A>G, NP_036304.2:p.Gln271Arg, XP_005250316.1:p.Gln271Arg, NP_277041.1:p.Gln233Arg, NP_001156971.1:p.Gln221Arg, XP_047276138.1:p.Gln233Arg, XP_011514324.1:p.Gln238Arg, XP_047276139.1:p.Gln65Arg

Select item 14904435467.

rs1490443546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:100603992 (GRCh38)
7:100201615 (GRCh37)
Canonical SPDI:: NC_000007.14:100603991:C:A
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100603992C>A, NC_000007.13:g.100201615C>A, NM_002593.4:c.238C>A, NM_002593.3:c.238C>A, NR_038910.1:n.47G>T

Select item 14902008238.

rs1490200823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100595075 (GRCh38)
7:100192698 (GRCh37)
Canonical SPDI:: NC_000007.14:100595074:C:T
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100595075C>T, NC_000007.13:g.100192698C>T

Select item 14900890009.

rs1490089000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:100602518 (GRCh38)
7:100200141 (GRCh37)
Canonical SPDI:: NC_000007.14:100602517:C:A,NC_000007.14:100602517:C:T
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100602518C>A, NC_000007.14:g.100602518C>T, NC_000007.13:g.100200141C>A, NC_000007.13:g.100200141C>T, NM_002593.4:c.62C>A, NM_002593.4:c.62C>T, NM_002593.3:c.62C>A, NM_002593.3:c.62C>T, NR_038910.1:n.850G>T, NR_038910.1:n.850G>A, NP_002584.2:p.Pro21His, NP_002584.2:p.Pro21Leu

Select item 148998486110.

rs1489984861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100604228 (GRCh38)
7:100201851 (GRCh37)
Canonical SPDI:: NC_000007.14:100604227:C:G,NC_000007.14:100604227:C:T
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100604228C>G, NC_000007.14:g.100604228C>T, NC_000007.13:g.100201851C>G, NC_000007.13:g.100201851C>T

Select item 148997668511.

rs1489976685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100601954 (GRCh38)
7:100199577 (GRCh37)
Canonical SPDI:: NC_000007.14:100601953:G:A,NC_000007.14:100601953:G:T
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.100601954G>A, NC_000007.14:g.100601954G>T, NC_000007.13:g.100199577G>A, NC_000007.13:g.100199577G>T

Select item 148995128212.

rs1489951282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100602651 (GRCh38)
7:100200274 (GRCh37)
Canonical SPDI:: NC_000007.14:100602650:A:C
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100602651A>C, NC_000007.13:g.100200274A>C, NR_038910.1:n.717T>G

Select item 148957746513.

rs1489577465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100602505 (GRCh38)
7:100200128 (GRCh37)
Canonical SPDI:: NC_000007.14:100602504:T:C
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100602505T>C, NC_000007.13:g.100200128T>C, NM_002593.4:c.49T>C, NM_002593.3:c.49T>C, NR_038910.1:n.863A>G, NP_002584.2:p.Cys17Arg

Select item 148941171714.

rs1489411717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100590031 (GRCh38)
7:100187654 (GRCh37)
Canonical SPDI:: NC_000007.14:100590030:G:C
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100590031G>C, NC_000007.13:g.100187654G>C, NM_012172.5:c.208G>C, NM_012172.4:c.208G>C, XM_005250259.5:c.208G>C, XM_005250259.4:c.208G>C, XM_005250259.3:c.208G>C, XM_005250259.2:c.208G>C, XM_005250259.1:c.208G>C, NM_033506.3:c.94G>C, NM_033506.2:c.94G>C, NM_001163499.2:c.58G>C, NM_001163499.1:c.58G>C, NR_038910.1:n.1908C>G, XM_047420182.1:c.94G>C, XM_011516022.1:c.109G>C, XM_047420183.1:c.-227G>C, NP_036304.2:p.Gly70Arg, XP_005250316.1:p.Gly70Arg, NP_277041.1:p.Gly32Arg, NP_001156971.1:p.Gly20Arg, XP_047276138.1:p.Gly32Arg, XP_011514324.1:p.Gly37Arg

Select item 148933762415.

rs1489337624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100589703 (GRCh38)
7:100187326 (GRCh37)
Canonical SPDI:: NC_000007.14:100589702:C:T
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.100589703C>T, NC_000007.13:g.100187326C>T, NM_012172.5:c.63C>T, NM_012172.4:c.63C>T, XM_005250259.5:c.63C>T, XM_005250259.4:c.63C>T, XM_005250259.3:c.63C>T, XM_005250259.2:c.63C>T, XM_005250259.1:c.63C>T, NR_038910.1:n.2236G>A

Select item 148888331816.

rs1488883318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100599087 (GRCh38)
7:100196710 (GRCh37)
Canonical SPDI:: NC_000007.14:100599086:A:C
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_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_000007.14:g.100599087A>C, NC_000007.13:g.100196710A>C

Select item 148860060117.

rs1488600601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:100602793 (GRCh38)
7:100200416 (GRCh37)
Canonical SPDI:: NC_000007.14:100602792:A:C,NC_000007.14:100602792:A:T
Gene:: PCOLCE (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/4 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000354/6 (TOMMO)
C=0.003434/10 (KOREAN)
HGVS:: NC_000007.14:g.100602793A>C, NC_000007.14:g.100602793A>T, NC_000007.13:g.100200416A>C, NC_000007.13:g.100200416A>T, NR_038910.1:n.575T>G, NR_038910.1:n.575T>A

Select item 148843112018.

rs1488431120 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACT>- [Show Flanks]
Chromosome:: 7:100591431 (GRCh38)
7:100189054 (GRCh37)
Canonical SPDI:: NC_000007.14:100591428:CTCACT:CT
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100591431_100591434del, NC_000007.13:g.100189054_100189057del

Select item 148842407219.

rs1488424072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:100593518 (GRCh38)
7:100191141 (GRCh37)
Canonical SPDI:: NC_000007.14:100593517:C:A
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100593518C>A, NC_000007.13:g.100191141C>A

Select item 148842405420.

rs1488424054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:100589608 (GRCh38)
7:100187231 (GRCh37)
Canonical SPDI:: NC_000007.14:100589607:G:A,NC_000007.14:100589607:G:C
Gene:: FBXO24 (Varview), PCOLCE-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100589608G>A, NC_000007.14:g.100589608G>C, NC_000007.13:g.100187231G>A, NC_000007.13:g.100187231G>C, NM_012172.4:c.-33G>A, NM_012172.4:c.-33G>C, NR_038910.1:n.2331C>T, NR_038910.1:n.2331C>G, NM_001163499.1:c.-33G>A, NM_001163499.1:c.-33G>C

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