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Select item 14914552121.

rs1491455212 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:14484148 (GRCh38)
19:14594960 (GRCh37)
Canonical SPDI:: NC_000019.10:14484147:TG:
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.14484148_14484149del, NC_000019.9:g.14594960_14594961del

Select item 14914373212.

rs1491437321 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:14479366 (GRCh38)
19:14590179 (GRCh37)
Canonical SPDI:: NC_000019.10:14479366:G:GG
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.14479367dup, NC_000019.9:g.14590179dup

Select item 14913592523.

rs1491359252 has merged into rs35491814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:14486722 (GRCh38)
19:14597534 (GRCh37)
Canonical SPDI:: NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:14486712:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.27516/1378 (1000Genomes)
HGVS:: NC_000019.10:g.14486722_14486729del, NC_000019.10:g.14486723_14486729del, NC_000019.10:g.14486726_14486729del, NC_000019.10:g.14486727_14486729del, NC_000019.10:g.14486728_14486729del, NC_000019.10:g.14486729del, NC_000019.10:g.14486729dup, NC_000019.10:g.14486728_14486729dup, NC_000019.10:g.14486727_14486729dup, NC_000019.10:g.14486726_14486729dup, NC_000019.10:g.14486725_14486729dup, NC_000019.10:g.14486724_14486729dup, NC_000019.10:g.14486723_14486729dup, NC_000019.10:g.14486722_14486729dup, NC_000019.10:g.14486721_14486729dup, NC_000019.10:g.14486720_14486729dup, NC_000019.10:g.14486719_14486729dup, NC_000019.10:g.14486717_14486729dup, NC_000019.10:g.14486716_14486729dup, NC_000019.9:g.14597534_14597541del, NC_000019.9:g.14597535_14597541del, NC_000019.9:g.14597538_14597541del, NC_000019.9:g.14597539_14597541del, NC_000019.9:g.14597540_14597541del, NC_000019.9:g.14597541del, NC_000019.9:g.14597541dup, NC_000019.9:g.14597540_14597541dup, NC_000019.9:g.14597539_14597541dup, NC_000019.9:g.14597538_14597541dup, NC_000019.9:g.14597537_14597541dup, NC_000019.9:g.14597536_14597541dup, NC_000019.9:g.14597535_14597541dup, NC_000019.9:g.14597534_14597541dup, NC_000019.9:g.14597533_14597541dup, NC_000019.9:g.14597532_14597541dup, NC_000019.9:g.14597531_14597541dup, NC_000019.9:g.14597529_14597541dup, NC_000019.9:g.14597528_14597541dup

Select item 14913013024.

rs1491301302 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:14486729 (GRCh38)
19:14597541 (GRCh37)
Canonical SPDI:: NC_000019.10:14486728:TG:
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000019.10:g.14486729_14486730del, NC_000019.9:g.14597541_14597542del

Select item 14912628285.

rs1491262828 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14912540806.

rs1491254080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:14484148 (GRCh38)
19:14594961 (GRCh37)
Canonical SPDI:: NC_000019.10:14484148:G:GG
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000046/5 (GnomAD)
HGVS:: NC_000019.10:g.14484149dup, NC_000019.9:g.14594961dup

Select item 14912132077.

rs1491213207 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:14487699 (GRCh38)
19:14598511 (GRCh37)
Canonical SPDI:: NC_000019.10:14487697:ACA:A
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.14487699_14487700del, NC_000019.9:g.14598511_14598512del

Select item 14911753878.

rs1491175387 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:14479367 (GRCh38)
19:14590179 (GRCh37)
Canonical SPDI:: NC_000019.10:14479365:AGA:A
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.14479367_14479368del, NC_000019.9:g.14590179_14590180del

Select item 14909335749.

rs1490933574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:14489522 (GRCh38)
19:14600334 (GRCh37)
Canonical SPDI:: NC_000019.10:14489521:T:C
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14489522T>C, NC_000019.9:g.14600334T>C, NG_029827.3:g.326T>C, NM_001146693.1:c.135T>C

Select item 149057045910.

rs1490570459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14481899 (GRCh38)
19:14592711 (GRCh37)
Canonical SPDI:: NC_000019.10:14481898:A:G
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14481899A>G, NC_000019.9:g.14592711A>G

Select item 149050074011.

rs1490500740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14482747 (GRCh38)
19:14593559 (GRCh37)
Canonical SPDI:: NC_000019.10:14482746:G:A
Gene:: GIPC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14482747G>A, NC_000019.9:g.14593559G>A, NM_005716.4:c.230C>T, NM_005716.3:c.230C>T, NM_202468.3:c.230C>T, NM_202468.2:c.230C>T, NM_202470.3:c.230C>T, NM_202470.2:c.230C>T, XM_017026147.2:c.230C>T, XM_017026147.1:c.230C>T, NP_005707.1:p.Thr77Ile, NP_974197.1:p.Thr77Ile, NP_974199.1:p.Thr77Ile, XP_016881636.1:p.Thr77Ile

Select item 149020034212.

rs1490200342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14483451 (GRCh38)
19:14594263 (GRCh37)
Canonical SPDI:: NC_000019.10:14483450:G:A
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00007/7 (GnomAD)
A=0.000283/4 (TOMMO)
HGVS:: NC_000019.10:g.14483451G>A, NC_000019.9:g.14594263G>A

Select item 149014178813.

rs1490141788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:14495656 (GRCh38)
19:14606468 (GRCh37)
Canonical SPDI:: NC_000019.10:14495655:C:G,NC_000019.10:14495655:C:T
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000019.10:g.14495656C>G, NC_000019.10:g.14495656C>T, NC_000019.9:g.14606468C>G, NC_000019.9:g.14606468C>T

Select item 149012487414.

rs1490124874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14482971 (GRCh38)
19:14593783 (GRCh37)
Canonical SPDI:: NC_000019.10:14482970:C:T
Gene:: GIPC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.14482971C>T, NC_000019.9:g.14593783C>T, NM_005716.4:c.6G>A, NM_005716.3:c.6G>A, NM_202468.3:c.6G>A, NM_202468.2:c.6G>A, NM_202470.3:c.6G>A, NM_202470.2:c.6G>A, XM_017026147.2:c.6G>A, XM_017026147.1:c.6G>A

Select item 149000872815.

rs1490008728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:14483083 (GRCh38)
19:14593895 (GRCh37)
Canonical SPDI:: NC_000019.10:14483082:G:T
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.14483083G>T, NC_000019.9:g.14593895G>T

Select item 148976683816.

rs1489766838 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:14488233 (GRCh38)
19:14599045 (GRCh37)
Canonical SPDI:: NC_000019.10:14488232:AT:
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.14488233_14488234del, NC_000019.9:g.14599045_14599046del

Select item 148975810317.

rs1489758103 has merged into rs1233846702 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAATAAA>-,TAAA,TAAATAAATAAA [Show Flanks]
Chromosome:: 19:14485674 (GRCh38)
19:14596486 (GRCh37)
Canonical SPDI:: NC_000019.10:14485658:AAATAAATAAATAAATAAATAAA:AAATAAATAAATAAA,NC_000019.10:14485658:AAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAA,NC_000019.10:14485658:AAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAA
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.14485662TAAA[3], NC_000019.10:g.14485662TAAA[4], NC_000019.10:g.14485662TAAA[6], NC_000019.9:g.14596474TAAA[3], NC_000019.9:g.14596474TAAA[4], NC_000019.9:g.14596474TAAA[6]

Select item 148966596318.

rs1489665963 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:14484125 (GRCh38)
19:14594937 (GRCh37)
Canonical SPDI:: NC_000019.10:14484124:GA:
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.14484125_14484126del, NC_000019.9:g.14594937_14594938del

Select item 148961171919.

rs1489611719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14477329 (GRCh38)
19:14588141 (GRCh37)
Canonical SPDI:: NC_000019.10:14477328:G:A
Gene:: PTGER1 (Varview), GIPC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.14477329G>A, NC_000019.9:g.14588141G>A

Select item 148940008020.

rs1489400080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14480275 (GRCh38)
19:14591087 (GRCh37)
Canonical SPDI:: NC_000019.10:14480274:A:G
Gene:: GIPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.14480275A>G, NC_000019.9:g.14591087A>G

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