SNP Links for Gene (Select 10438) - SNP

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Select item 14910800161.

rs1491080016 has merged into rs142398518 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 2:68054975 (GRCh38)
2:68282107 (GRCh37)
Canonical SPDI:: NC_000002.12:68054969:TTTTTTTTTT:TTTTT,NC_000002.12:68054969:TTTTTTTTTT:TTTTTT,NC_000002.12:68054969:TTTTTTTTTT:TTTTTTTT,NC_000002.12:68054969:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:68054969:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:68054969:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.02167/13 (NorthernSweden)
TT=0.04748/183 (ALSPAC)
T=0.05/2 (GENOME_DK)
TT=0.0507/188 (TWINSUK)
T=0.05418/241 (Estonian)
HGVS:: NC_000002.12:g.68054975_68054979del, NC_000002.12:g.68054976_68054979del, NC_000002.12:g.68054978_68054979del, NC_000002.12:g.68054979del, NC_000002.12:g.68054979dup, NC_000002.12:g.68054978_68054979dup, NC_000002.11:g.68282107_68282111del, NC_000002.11:g.68282108_68282111del, NC_000002.11:g.68282110_68282111del, NC_000002.11:g.68282111del, NC_000002.11:g.68282111dup, NC_000002.11:g.68282110_68282111dup

Select item 14910090882.

rs1491009088 has merged into rs780435013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:68056111 (GRCh38)
2:68283243 (GRCh37)
Canonical SPDI:: NC_000002.12:68056109:TTT:T
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.68056111_68056112del, NC_000002.11:g.68283243_68283244del

Select item 14907182453.

rs1490718245 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:68060292 (GRCh38)
2:68287425 (GRCh37)
Canonical SPDI:: NC_000002.12:68060292:A:AA
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.68060293dup, NC_000002.11:g.68287425dup

Select item 14904485374.

rs1490448537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:68044721 (GRCh38)
2:68271853 (GRCh37)
Canonical SPDI:: NC_000002.12:68044720:A:G
Gene:: C1D (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_000002.12:g.68044721A>G, NC_000002.11:g.68271853A>G

Select item 14903456015.

rs1490345601 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 2:68056992 (GRCh38)
2:68284125 (GRCh37)
Canonical SPDI:: NC_000002.12:68056992:C:CAC
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CA=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.68056993_68056994insAC, NC_000002.11:g.68284125_68284126insAC

Select item 14903276636.

rs1490327663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:68051633 (GRCh38)
2:68278765 (GRCh37)
Canonical SPDI:: NC_000002.12:68051632:G:A,NC_000002.12:68051632:G:T
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.68051633G>A, NC_000002.12:g.68051633G>T, NC_000002.11:g.68278765G>A, NC_000002.11:g.68278765G>T

Select item 14902887287.

rs1490288728 [Homo sapiens]

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

Select item 14901250068.

rs1490125006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:68043867 (GRCh38)
2:68270999 (GRCh37)
Canonical SPDI:: NC_000002.12:68043866:T:A
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.68043867T>A, NC_000002.11:g.68270999T>A

Select item 14899283869.

rs1489928386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:68058610 (GRCh38)
2:68285742 (GRCh37)
Canonical SPDI:: NC_000002.12:68058609:G:A
Gene:: C1D (Varview)
Functional Consequence:: intron_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.68058610G>A, NC_000002.11:g.68285742G>A

Select item 148992233310.

rs1489922333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:68042945 (GRCh38)
2:68270077 (GRCh37)
Canonical SPDI:: NC_000002.12:68042944:C:A
Gene:: C1D (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.68042945C>A, NC_000002.11:g.68270077C>A, NM_006333.4:c.370G>T, NM_006333.3:c.370G>T, NM_173177.3:c.370G>T, NM_173177.2:c.370G>T, NM_001190265.2:c.370G>T, NM_001190265.1:c.370G>T, NM_001190263.2:c.370G>T, NM_001190263.1:c.370G>T, NP_006324.1:p.Glu124Ter, NP_775269.1:p.Glu124Ter, NP_001177194.1:p.Glu124Ter, NP_001177192.1:p.Glu124Ter

Select item 148990318911.

rs1489903189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:68059828 (GRCh38)
2:68286960 (GRCh37)
Canonical SPDI:: NC_000002.12:68059827:G:C
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.68059828G>C, NC_000002.11:g.68286960G>C

Select item 148962955512.

rs1489629555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:68051485 (GRCh38)
2:68278617 (GRCh37)
Canonical SPDI:: NC_000002.12:68051484:C:A
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.68051485C>A, NC_000002.11:g.68278617C>A

Select item 148944813013.

rs1489448130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:68061169 (GRCh38)
2:68288301 (GRCh37)
Canonical SPDI:: NC_000002.12:68061168:T:C
Gene:: C1D (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_000002.12:g.68061169T>C, NC_000002.11:g.68288301T>C

Select item 148941162514.

rs1489411625 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAA>- [Show Flanks]
Chromosome:: 2:68057642 (GRCh38)
2:68284774 (GRCh37)
Canonical SPDI:: NC_000002.12:68057639:AATAAA:AA
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.68057642_68057645del, NC_000002.11:g.68284774_68284777del

Select item 148939648115.

rs1489396481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:68062200 (GRCh38)
2:68289332 (GRCh37)
Canonical SPDI:: NC_000002.12:68062199:A:C
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.68062200A>C, NC_000002.11:g.68289332A>C

Select item 148928310116.

rs1489283101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:68045252 (GRCh38)
2:68272384 (GRCh37)
Canonical SPDI:: NC_000002.12:68045251:T:C,NC_000002.12:68045251:T:G
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.68045252T>C, NC_000002.12:g.68045252T>G, NC_000002.11:g.68272384T>C, NC_000002.11:g.68272384T>G

Select item 148916332617.

rs1489163326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:68046422 (GRCh38)
2:68273554 (GRCh37)
Canonical SPDI:: NC_000002.12:68046421:G:T
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.68046422G>T, NC_000002.11:g.68273554G>T

Select item 148900350618.

rs1489003506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:68050286 (GRCh38)
2:68277418 (GRCh37)
Canonical SPDI:: NC_000002.12:68050285:A:C
Gene:: C1D (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)
C=0.000071/2 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.68050286A>C, NC_000002.11:g.68277418A>C

Select item 148891736419.

rs1488917364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:68048456 (GRCh38)
2:68275588 (GRCh37)
Canonical SPDI:: NC_000002.12:68048455:C:A
Gene:: C1D (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.68048456C>A, NC_000002.11:g.68275588C>A

Select item 148876036720.

rs1488760367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:68063423 (GRCh38)
2:68290555 (GRCh37)
Canonical SPDI:: NC_000002.12:68063422:T:C
Gene:: C1D (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.68063423T>C, NC_000002.11:g.68290555T>C, NG_082565.1:g.952T>C

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