SNP Links for Gene (Select 2632) - SNP

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Select item 14915877841.

rs1491587784 has merged into rs1453874485 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTATATATATGTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:81750645 (GRCh38)
3:81799796 (GRCh37)
Canonical SPDI:: NC_000003.12:81750643:TGT:T,NC_000003.12:81750643:TGT:TGTGT,NC_000003.12:81750643:TGT:TGTGTATATATATGTGT,NC_000003.12:81750643:TGT:TGTGTGT,NC_000003.12:81750643:TGT:TGTGTGTGTGT,NC_000003.12:81750643:TGT:TGTGTGTGTGTGT,NC_000003.12:81750643:TGT:TGTGTGTGTGTGTGT,NC_000003.12:81750643:TGT:TGTGTGTGTGTGTGTGT
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.81750645_81750646del, NC_000003.12:g.81750645_81750646dup, NC_000003.12:g.81750644_81750646TG[2]TA[4]TG[2]T[1], NC_000003.12:g.81750645GT[3], NC_000003.12:g.81750645GT[5], NC_000003.12:g.81750645GT[6], NC_000003.12:g.81750645GT[7], NC_000003.12:g.81750645GT[8], NC_000003.11:g.81799796_81799797del, NC_000003.11:g.81799796_81799797dup, NC_000003.11:g.81799795_81799797TG[2]TA[4]TG[2]T[1], NC_000003.11:g.81799796GT[3], NC_000003.11:g.81799796GT[5], NC_000003.11:g.81799796GT[6], NC_000003.11:g.81799796GT[7], NC_000003.11:g.81799796GT[8], NG_011810.1:g.16156_16157del, NG_011810.1:g.16156_16157dup, NG_011810.1:g.16155_16157AC[2]AT[4]AC[2]A[1], NG_011810.1:g.16156CA[3], NG_011810.1:g.16156CA[5], NG_011810.1:g.16156CA[6], NG_011810.1:g.16156CA[7], NG_011810.1:g.16156CA[8], XR_007096259.1:n.1454_1455del, XR_007096259.1:n.1454_1455dup, XR_007096259.1:n.1453_1455AC[2]AT[4]AC[2]A[1], XR_007096259.1:n.1454CA[3], XR_007096259.1:n.1454CA[5], XR_007096259.1:n.1454CA[6], XR_007096259.1:n.1454CA[7], XR_007096259.1:n.1454CA[8]

Select item 14915856662.

rs1491585666 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:81750631 (GRCh38)
3:81799782 (GRCh37)
Canonical SPDI:: NC_000003.12:81750630:GT:
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00418/86 (GnomAD)
HGVS:: NC_000003.12:g.81750631_81750632del, NC_000003.11:g.81799782_81799783del, NG_011810.1:g.16169_16170del, XR_007096259.1:n.1467_1468del

Select item 14915835863.

rs1491583586 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,ACGTATATATATATATGTATATATATAC,ATAC,ATATATACAC,ATATATATAC,ATATATATATAC,ATATATATATATAC,ATATATATATATGTATATATATAC,ATATATATATATGTATATATATATAC [Show Flanks]
Chromosome:: 3:81750658 (GRCh38)
3:81799810 (GRCh37)
Canonical SPDI:: NC_000003.12:81750658::AC,NC_000003.12:81750658::ACGTATATATATATATGTATATATATAC,NC_000003.12:81750658::ATAC,NC_000003.12:81750658::ATATATACAC,NC_000003.12:81750658::ATATATATAC,NC_000003.12:81750658::ATATATATATAC,NC_000003.12:81750658::ATATATATATATAC,NC_000003.12:81750658::ATATATATATATGTATATATATAC,NC_000003.12:81750658::ATATATATATATGTATATATATATAC
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAC=0./0 (ALFA)
HGVS:: NC_000003.12:g.81750658_81750659insAC, NC_000003.12:g.81750658_81750659insACGTATATATATATATGTATATATATAC, NC_000003.12:g.81750658_81750659insATAC, NC_000003.12:g.81750658_81750659insATATATACAC, NC_000003.12:g.81750658_81750659insATATATATAC, NC_000003.12:g.81750658_81750659insATATATATATAC, NC_000003.12:g.81750658_81750659insATATATATATATAC, NC_000003.12:g.81750658_81750659insATATATATATATGTATATATATAC, NC_000003.12:g.81750658_81750659insATATATATATATGTATATATATATAC, NC_000003.11:g.81799809_81799810insAC, NC_000003.11:g.81799809_81799810insACGTATATATATATATGTATATATATAC, NC_000003.11:g.81799809_81799810insATAC, NC_000003.11:g.81799809_81799810insATATATACAC, NC_000003.11:g.81799809_81799810insATATATATAC, NC_000003.11:g.81799809_81799810insATATATATATAC, NC_000003.11:g.81799809_81799810insATATATATATATAC, NC_000003.11:g.81799809_81799810insATATATATATATGTATATATATAC, NC_000003.11:g.81799809_81799810insATATATATATATGTATATATATATAC, NG_011810.1:g.16142_16143insGT, NG_011810.1:g.16142_16143insGTATATATATACATATATATATATACGT, NG_011810.1:g.16142_16143insGTAT, NG_011810.1:g.16142_16143insGTGTATATAT, NG_011810.1:g.16142_16143insGTATATATAT, NG_011810.1:g.16142_16143insGTATATATATAT, NG_011810.1:g.16142_16143insGTATATATATATAT, NG_011810.1:g.16142_16143insGTATATATATACATATATATATAT, NG_011810.1:g.16142_16143insGTATATATATATACATATATATATAT, XR_007096259.1:n.1440_1441insGT, XR_007096259.1:n.1440_1441insGTATATATATACATATATATATATACGT, XR_007096259.1:n.1440_1441insGTAT, XR_007096259.1:n.1440_1441insGTGTATATAT, XR_007096259.1:n.1440_1441insGTATATATAT, XR_007096259.1:n.1440_1441insGTATATATATAT, XR_007096259.1:n.1440_1441insGTATATATATATAT, XR_007096259.1:n.1440_1441insGTATATATATACATATATATATAT, XR_007096259.1:n.1440_1441insGTATATATATATACATATATATATAT

Select item 14915748384.

rs1491574838 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAGA,CAGAGA [Show Flanks]
Chromosome:: 3:81702083 (GRCh38)
3:81751235 (GRCh37)
Canonical SPDI:: NC_000003.12:81702083:AGAGA:AGAGAAAGAGA,NC_000003.12:81702083:AGAGA:AGAGACAGAGA
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGACAGAGA=0./0 (ALFA)
HGVS:: NC_000003.12:g.81702084_81702088AG[2]AAAGAGA[1], NC_000003.12:g.81702084_81702088AG[2]ACAGAGA[1], NC_000003.11:g.81751235_81751239AG[2]AAAGAGA[1], NC_000003.11:g.81751235_81751239AG[2]ACAGAGA[1], NG_011810.1:g.64713_64717TC[2]TTTCTCT[1], NG_011810.1:g.64713_64717TC[2]TGTCTCT[1]

Select item 14915668695.

rs1491566869 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 3:81750588 (GRCh38)
3:81799740 (GRCh37)
Canonical SPDI:: NC_000003.12:81750588::AT
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000003.12:g.81750588_81750589insAT, NC_000003.11:g.81799739_81799740insAT, NG_011810.1:g.16212_16213insAT, XR_007096259.1:n.1510_1511insAT

Select item 14915562646.

rs1491556264 has merged into rs71108342 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATGTATATATATATAT,ATATATATATATATGTATATATATATATAT,ATATATATATATATGTATATATATATATGTATATATATATAT,ATATATATATATATGTATATATATATATGTATATATATATATGTATATATATATAT,ATATATATATATATGTATATATATATATGTATATATATATATGTATATATATATATATAT,ATATATATATATGTATATATATATAT,ATATATATATATGTATATATATATATGTATATATATATAT,ATATATATATATGTATATATATATATGTATATATATATATGTATATATATATAT,ATATATATATATGTATATATATATGTATATATATATAT,ATATATATATATGTATATATATATGTATATATATATATAT,ATATATATATATGTATATATATATGTATATATATATATGTATATATATATAT,ATATATATATATGTATATATATATGTATATATATATATGTATATATATATGTATATGTATATATATATAT,ATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATATGTATATATATATGTATATGTATATATATATAT [Show Flanks]
Chromosome:: 3:81750541 (GRCh38)
3:81799692 (GRCh37)
Canonical SPDI:: NC_000003.12:81750539:TATATATATAT:T,NC_000003.12:81750539:TATATATATAT:TATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATGTATATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATGTATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATGTATATATATATATGTATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATATGTATATATATATATGTATATATATATATGTATATATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATATGTATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATGTATATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATGTATATATATATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATGTATATATATATATGTATATATATATGTATATGTATATATATATAT,NC_000003.12:81750539:TATATATATAT:TATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATATGTATATATATATGTATATGTATATATATATAT
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.0947/39 (NorthernSweden)
TA=0.2953/1479 (1000Genomes)
HGVS:: NC_000003.12:g.81750541_81750550del, NC_000003.12:g.81750541AT[4], NC_000003.12:g.81750541AT[6], NC_000003.12:g.81750541AT[7], NC_000003.12:g.81750541AT[8], NC_000003.12:g.81750541AT[9], NC_000003.12:g.81750540_81750550TA[7]TGTATATATATATAT[1], NC_000003.12:g.81750540_81750550TA[7]TGTATATATATATATAT[1], NC_000003.12:g.81750540_81750550TA[7]TGTATATATATATA[2]T[1], NC_000003.12:g.81750540_81750550TA[7]TGTATATATATATA[3]T[1], NC_000003.12:g.81750540_81750550TA[7]TGTATATATATATA[3]TA[2]T[1], NC_000003.12:g.81750540_81750550TA[6]TGTATATATATATAT[1], NC_000003.12:g.81750540_81750550TATATATATATATG[2]TA[6]T[1], NC_000003.12:g.81750540_81750550TATATATATATATG[3]TA[6]T[1], NC_000003.12:g.81750540_81750550TA[6]TGTATATATATA[2]TAT[1], NC_000003.12:g.81750540_81750550TA[6]TGTATATATATA[2]TA[2]T[1], NC_000003.12:g.81750540_81750550TA[6]TGTATATATATA[2]TATGTATATATATATAT[1], NC_000003.12:g.81750540_81750550TATATATATATATGTATATATATATG[2]TA[2]TGTATATATATATAT[1], NC_000003.12:g.81750540_81750550TA[6]TGTATATATATA[4]TATGTATATATATATGTATATGTATATATATATAT[1], NC_000003.11:g.81799692_81799701del, NC_000003.11:g.81799692AT[4], NC_000003.11:g.81799692AT[6], NC_000003.11:g.81799692AT[7], NC_000003.11:g.81799692AT[8], NC_000003.11:g.81799692AT[9], NC_000003.11:g.81799691_81799701TA[7]TGTATATATATATAT[1], NC_000003.11:g.81799691_81799701TA[7]TGTATATATATATATAT[1], NC_000003.11:g.81799691_81799701TA[7]TGTATATATATATA[2]T[1], NC_000003.11:g.81799691_81799701TA[7]TGTATATATATATA[3]T[1], NC_000003.11:g.81799691_81799701TA[7]TGTATATATATATA[3]TA[2]T[1], NC_000003.11:g.81799691_81799701TA[6]TGTATATATATATAT[1], NC_000003.11:g.81799691_81799701TATATATATATATG[2]TA[6]T[1], NC_000003.11:g.81799691_81799701TATATATATATATG[3]TA[6]T[1], NC_000003.11:g.81799691_81799701TA[6]TGTATATATATA[2]TAT[1], NC_000003.11:g.81799691_81799701TA[6]TGTATATATATA[2]TA[2]T[1], NC_000003.11:g.81799691_81799701TA[6]TGTATATATATA[2]TATGTATATATATATAT[1], NC_000003.11:g.81799691_81799701TATATATATATATGTATATATATATG[2]TA[2]TGTATATATATATAT[1], NC_000003.11:g.81799691_81799701TA[6]TGTATATATATA[4]TATGTATATATATATGTATATGTATATATATATAT[1], NG_011810.1:g.16252_16261del, NG_011810.1:g.16252TA[4], NG_011810.1:g.16252TA[6], NG_011810.1:g.16252TA[7], NG_011810.1:g.16252TA[8], NG_011810.1:g.16252TA[9], NG_011810.1:g.16251_16261AT[6]ACATATATATATATATA[1], NG_011810.1:g.16251_16261AT[7]ACATATATATATATATA[1], NG_011810.1:g.16251_16261ATATATATATATAC[2]AT[7]A[1], NG_011810.1:g.16251_16261ATATATATATATAC[3]AT[7]A[1], NG_011810.1:g.16251_16261AT[8]ACATATATATATAT[3]ATA[1], NG_011810.1:g.16251_16261AT[6]ACATATATATATATA[1], NG_011810.1:g.16251_16261ATATATATATATAC[2]AT[6]A[1], NG_011810.1:g.16251_16261ATATATATATATAC[3]AT[6]A[1], NG_011810.1:g.16251_16261AT[6]ACATATATATAT[2]ATA[1], NG_011810.1:g.16251_16261AT[7]ACATATATATAT[2]ATA[1], NG_011810.1:g.16251_16261ATATATATATATAC[2]AT[5]ACATATATATATATA[1], NG_011810.1:g.16251_16261AT[6]ACATAT[2]ATATATACATATAT[2]AT[2]ACATATATATATATA[1], NG_011810.1:g.16251_16261AT[6]ACATAT[2]ATATATACATATAT[2]ATATACATATAT[3]AT[3]A[1], XR_007096259.1:n.1550_1559del, XR_007096259.1:n.1550TA[4], XR_007096259.1:n.1550TA[6], XR_007096259.1:n.1550TA[7], XR_007096259.1:n.1550TA[8], XR_007096259.1:n.1550TA[9], XR_007096259.1:n.1549_1559AT[6]ACATATATATATATATA[1], XR_007096259.1:n.1549_1559AT[7]ACATATATATATATATA[1], XR_007096259.1:n.1549_1559ATATATATATATAC[2]AT[7]A[1], XR_007096259.1:n.1549_1559ATATATATATATAC[3]AT[7]A[1], XR_007096259.1:n.1549_1559AT[8]ACATATATATATAT[3]ATA[1], XR_007096259.1:n.1549_1559AT[6]ACATATATATATATA[1], XR_007096259.1:n.1549_1559ATATATATATATAC[2]AT[6]A[1], XR_007096259.1:n.1549_1559ATATATATATATAC[3]AT[6]A[1], XR_007096259.1:n.1549_1559AT[6]ACATATATATAT[2]ATA[1], XR_007096259.1:n.1549_1559AT[7]ACATATATATAT[2]ATA[1], XR_007096259.1:n.1549_1559ATATATATATATAC[2]AT[5]ACATATATATATATA[1], XR_007096259.1:n.1549_1559AT[6]ACATAT[2]ATATATACATATAT[2]AT[2]ACATATATATATATA[1], XR_007096259.1:n.1549_1559AT[6]ACATAT[2]ATATATACATATAT[2]ATATACATATAT[3]AT[3]A[1]

Select item 14915525667.

rs1491552566 has merged into rs140994395 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 3:81507702 (GRCh38)
3:81556853 (GRCh37)
Canonical SPDI:: NC_000003.12:81507690:TATATATATATAT:TATATATATAT,NC_000003.12:81507690:TATATATATATAT:TATATATATATATAT,NC_000003.12:81507690:TATATATATATAT:TATATATATATATATAT
Gene:: GBE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.275/11 (GENOME_DK)
TA=0.27667/166 (NorthernSweden)
TA=0.36414/6103 (TOMMO)
HGVS:: NC_000003.12:g.81507692AT[5], NC_000003.12:g.81507692AT[7], NC_000003.12:g.81507692AT[8], NC_000003.11:g.81556843AT[5], NC_000003.11:g.81556843AT[7], NC_000003.11:g.81556843AT[8], NG_011810.1:g.259099TA[5], NG_011810.1:g.259099TA[7], NG_011810.1:g.259099TA[8]

Select item 14915486528.

rs1491548652 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:81750577 (GRCh38)
3:81799728 (GRCh37)
Canonical SPDI:: NC_000003.12:81750576:GT:
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000003.12:g.81750577_81750578del, NC_000003.11:g.81799728_81799729del, NG_011810.1:g.16223_16224del, XR_007096259.1:n.1521_1522del

Select item 14915483519.

rs1491548351 has merged into rs60326449 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTGTTGTT>-,GTT,GTTGTT,GTTGTTGTTGTT,GTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTT [Show Flanks]
Chromosome:: 3:81655528 (GRCh38)
3:81704679 (GRCh37)
Canonical SPDI:: NC_000003.12:81655513:TTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTT,NC_000003.12:81655513:TTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTT,NC_000003.12:81655513:TTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTT,NC_000003.12:81655513:TTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000003.12:81655513:TTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000003.12:81655513:TTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTGTTGTTGTTGTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.81655516GTT[4], NC_000003.12:g.81655516GTT[5], NC_000003.12:g.81655516GTT[6], NC_000003.12:g.81655516GTT[8], NC_000003.12:g.81655516GTT[9], NC_000003.12:g.81655516GTT[10], NC_000003.11:g.81704667GTT[4], NC_000003.11:g.81704667GTT[5], NC_000003.11:g.81704667GTT[6], NC_000003.11:g.81704667GTT[8], NC_000003.11:g.81704667GTT[9], NC_000003.11:g.81704667GTT[10], NG_011810.1:g.111267CAA[4], NG_011810.1:g.111267CAA[5], NG_011810.1:g.111267CAA[6], NG_011810.1:g.111267CAA[8], NG_011810.1:g.111267CAA[9], NG_011810.1:g.111267CAA[10]

Select item 149153960610.

rs1491539606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 3:81750540 (GRCh38)
3:81799692 (GRCh37)
Canonical SPDI:: NC_000003.12:81750540:A:ACA
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000003.12:g.81750541_81750542insCA, NC_000003.11:g.81799692_81799693insCA, NG_011810.1:g.16260_16261insGT, XR_007096259.1:n.1558_1559insGT

Select item 149153646911.

rs1491536469 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 3:81737349 (GRCh38)
3:81786501 (GRCh37)
Canonical SPDI:: NC_000003.12:81737349::T,NC_000003.12:81737349::TT
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TT=0.00008/8 (GnomAD)
HGVS:: NC_000003.12:g.81737349_81737350insT, NC_000003.12:g.81737349_81737350insTT, NC_000003.11:g.81786500_81786501insT, NC_000003.11:g.81786500_81786501insTT, NG_011810.1:g.29451_29452insA, NG_011810.1:g.29451_29452insAA

Select item 149152830712.

rs1491528307 has merged into rs1411695091 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:81721256 (GRCh38)
3:81770407 (GRCh37)
Canonical SPDI:: NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.81721256_81721257del, NC_000003.12:g.81721257del, NC_000003.12:g.81721257dup, NC_000003.12:g.81721256_81721257dup, NC_000003.12:g.81721255_81721257dup, NC_000003.12:g.81721254_81721257dup, NC_000003.12:g.81721253_81721257dup, NC_000003.12:g.81721252_81721257dup, NC_000003.12:g.81721251_81721257dup, NC_000003.12:g.81721250_81721257dup, NC_000003.12:g.81721249_81721257dup, NC_000003.12:g.81721248_81721257dup, NC_000003.11:g.81770407_81770408del, NC_000003.11:g.81770408del, NC_000003.11:g.81770408dup, NC_000003.11:g.81770407_81770408dup, NC_000003.11:g.81770406_81770408dup, NC_000003.11:g.81770405_81770408dup, NC_000003.11:g.81770404_81770408dup, NC_000003.11:g.81770403_81770408dup, NC_000003.11:g.81770402_81770408dup, NC_000003.11:g.81770401_81770408dup, NC_000003.11:g.81770400_81770408dup, NC_000003.11:g.81770399_81770408dup, NG_011810.1:g.45556_45557del, NG_011810.1:g.45557del, NG_011810.1:g.45557dup, NG_011810.1:g.45556_45557dup, NG_011810.1:g.45555_45557dup, NG_011810.1:g.45554_45557dup, NG_011810.1:g.45553_45557dup, NG_011810.1:g.45552_45557dup, NG_011810.1:g.45551_45557dup, NG_011810.1:g.45550_45557dup, NG_011810.1:g.45549_45557dup, NG_011810.1:g.45548_45557dup

Select item 149152508813.

rs1491525088 has merged into rs869068286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 3:81627769 (GRCh38)
3:81676920 (GRCh37)
Canonical SPDI:: NC_000003.12:81627766:AAAAAA:AA,NC_000003.12:81627766:AAAAAA:AAAA,NC_000003.12:81627766:AAAAAA:AAAAA,NC_000003.12:81627766:AAAAAA:AAAAAAA,NC_000003.12:81627766:AAAAAA:AAAAAAAA
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000003.12:g.81627769_81627772del, NC_000003.12:g.81627771_81627772del, NC_000003.12:g.81627772del, NC_000003.12:g.81627772dup, NC_000003.12:g.81627771_81627772dup, NC_000003.11:g.81676920_81676923del, NC_000003.11:g.81676922_81676923del, NC_000003.11:g.81676923del, NC_000003.11:g.81676923dup, NC_000003.11:g.81676922_81676923dup, NG_011810.1:g.139031_139034del, NG_011810.1:g.139033_139034del, NG_011810.1:g.139034del, NG_011810.1:g.139034dup, NG_011810.1:g.139033_139034dup

Select item 149152475614.

rs1491524756 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:81720332 (GRCh38)
3:81769483 (GRCh37)
Canonical SPDI:: NC_000003.12:81720331:CT:
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.81720332_81720333del, NC_000003.11:g.81769483_81769484del, NG_011810.1:g.46468_46469del

Select item 149151176115.

rs1491511761 has merged into rs1158498662 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT [Show Flanks]
Chromosome:: 3:81737377 (GRCh38)
3:81786528 (GRCh37)
Canonical SPDI:: NC_000003.12:81737375:TTTTT:T,NC_000003.12:81737375:TTTTT:TTT,NC_000003.12:81737375:TTTTT:TTTT
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.81737377_81737380del, NC_000003.12:g.81737379_81737380del, NC_000003.12:g.81737380del, NC_000003.11:g.81786528_81786531del, NC_000003.11:g.81786530_81786531del, NC_000003.11:g.81786531del, NG_011810.1:g.29422_29425del, NG_011810.1:g.29424_29425del, NG_011810.1:g.29425del

Select item 149148617916.

rs1491486179 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:81593034 (GRCh38)
3:81642185 (GRCh37)
Canonical SPDI:: NC_000003.12:81593032:TCT:T
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.81593034_81593035del, NC_000003.11:g.81642185_81642186del, NG_011810.1:g.173767_173768del

Select item 149147290917.

rs1491472909 has merged into rs553712949 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 3:81722911 (GRCh38)
3:81772062 (GRCh37)
Canonical SPDI:: NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000003.12:81722896:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000003.12:g.81722897TA[7], NC_000003.12:g.81722897TA[8], NC_000003.12:g.81722897TA[9], NC_000003.12:g.81722897TA[11], NC_000003.12:g.81722897TA[12], NC_000003.12:g.81722897TA[13], NC_000003.12:g.81722897TA[14], NC_000003.12:g.81722897TA[15], NC_000003.12:g.81722897TA[16], NC_000003.12:g.81722897TA[17], NC_000003.12:g.81722897TA[18], NC_000003.12:g.81722897TA[19], NC_000003.12:g.81722897TA[21], NC_000003.11:g.81772048TA[7], NC_000003.11:g.81772048TA[8], NC_000003.11:g.81772048TA[9], NC_000003.11:g.81772048TA[11], NC_000003.11:g.81772048TA[12], NC_000003.11:g.81772048TA[13], NC_000003.11:g.81772048TA[14], NC_000003.11:g.81772048TA[15], NC_000003.11:g.81772048TA[16], NC_000003.11:g.81772048TA[17], NC_000003.11:g.81772048TA[18], NC_000003.11:g.81772048TA[19], NC_000003.11:g.81772048TA[21], NG_011810.1:g.43885TA[7], NG_011810.1:g.43885TA[8], NG_011810.1:g.43885TA[9], NG_011810.1:g.43885TA[11], NG_011810.1:g.43885TA[12], NG_011810.1:g.43885TA[13], NG_011810.1:g.43885TA[14], NG_011810.1:g.43885TA[15], NG_011810.1:g.43885TA[16], NG_011810.1:g.43885TA[17], NG_011810.1:g.43885TA[18], NG_011810.1:g.43885TA[19], NG_011810.1:g.43885TA[21]

Select item 149146482018.

rs1491464820 has merged into rs58899195 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:81552533 (GRCh38)
3:81601684 (GRCh37)
Canonical SPDI:: NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:81552520:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.263/10 (GENOME_DK)
HGVS:: NC_000003.12:g.81552533_81552546del, NC_000003.12:g.81552534_81552546del, NC_000003.12:g.81552535_81552546del, NC_000003.12:g.81552536_81552546del, NC_000003.12:g.81552538_81552546del, NC_000003.12:g.81552539_81552546del, NC_000003.12:g.81552540_81552546del, NC_000003.12:g.81552541_81552546del, NC_000003.12:g.81552542_81552546del, NC_000003.12:g.81552543_81552546del, NC_000003.12:g.81552544_81552546del, NC_000003.12:g.81552545_81552546del, NC_000003.12:g.81552546del, NC_000003.12:g.81552546dup, NC_000003.12:g.81552545_81552546dup, NC_000003.12:g.81552544_81552546dup, NC_000003.12:g.81552543_81552546dup, NC_000003.12:g.81552542_81552546dup, NC_000003.12:g.81552541_81552546dup, NC_000003.12:g.81552540_81552546dup, NC_000003.12:g.81552537_81552546dup, NC_000003.12:g.81552521_81552546A[40]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.81601684_81601697del, NC_000003.11:g.81601685_81601697del, NC_000003.11:g.81601686_81601697del, NC_000003.11:g.81601687_81601697del, NC_000003.11:g.81601689_81601697del, NC_000003.11:g.81601690_81601697del, NC_000003.11:g.81601691_81601697del, NC_000003.11:g.81601692_81601697del, NC_000003.11:g.81601693_81601697del, NC_000003.11:g.81601694_81601697del, NC_000003.11:g.81601695_81601697del, NC_000003.11:g.81601696_81601697del, NC_000003.11:g.81601697del, NC_000003.11:g.81601697dup, NC_000003.11:g.81601696_81601697dup, NC_000003.11:g.81601695_81601697dup, NC_000003.11:g.81601694_81601697dup, NC_000003.11:g.81601693_81601697dup, NC_000003.11:g.81601692_81601697dup, NC_000003.11:g.81601691_81601697dup, NC_000003.11:g.81601688_81601697dup, NC_000003.11:g.81601672_81601697A[40]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_011810.1:g.214267_214280del, NG_011810.1:g.214268_214280del, NG_011810.1:g.214269_214280del, NG_011810.1:g.214270_214280del, NG_011810.1:g.214272_214280del, NG_011810.1:g.214273_214280del, NG_011810.1:g.214274_214280del, NG_011810.1:g.214275_214280del, NG_011810.1:g.214276_214280del, NG_011810.1:g.214277_214280del, NG_011810.1:g.214278_214280del, NG_011810.1:g.214279_214280del, NG_011810.1:g.214280del, NG_011810.1:g.214280dup, NG_011810.1:g.214279_214280dup, NG_011810.1:g.214278_214280dup, NG_011810.1:g.214277_214280dup, NG_011810.1:g.214276_214280dup, NG_011810.1:g.214275_214280dup, NG_011810.1:g.214274_214280dup, NG_011810.1:g.214271_214280dup, NG_011810.1:g.214255_214280T[35]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149146307119.

rs1491463071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 3:81750674 (GRCh38)
3:81799826 (GRCh37)
Canonical SPDI:: NC_000003.12:81750674:GT:GTGT
Gene:: GBE1 (Varview), LOC124909490 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.81750675_81750676dup, NC_000003.11:g.81799826_81799827dup, NG_011810.1:g.16125_16126dup, XR_007096259.1:n.1423_1424dup

Select item 149145275620.

rs1491452756 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:81502010 (GRCh38)
3:81551162 (GRCh37)
Canonical SPDI:: NC_000003.12:81502010::C
Gene:: GBE1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.81502010_81502011insC, NC_000003.11:g.81551161_81551162insC, NG_011810.1:g.264790_264791insG

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