SNP Links for Gene (Select 8853) - SNP

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Select item 14915705711.

rs1491570571 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:9317474 (GRCh38)
2:9457603 (GRCh37)
Canonical SPDI:: NC_000002.12:9317473:CA:
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000002.12:g.9317474_9317475del, NC_000002.11:g.9457603_9457604del

Select item 14915476362.

rs1491547636 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:9234110 (GRCh38)
2:9374239 (GRCh37)
Canonical SPDI:: NC_000002.12:9234109:CA:
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.9234110_9234111del, NC_000002.11:g.9374239_9374240del

Select item 14915332083.

rs1491533208 has merged into rs753527243 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:9275094 (GRCh38)
2:9415223 (GRCh37)
Canonical SPDI:: NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:9275082:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.9275094_9275098del, NC_000002.12:g.9275095_9275098del, NC_000002.12:g.9275096_9275098del, NC_000002.12:g.9275097_9275098del, NC_000002.12:g.9275098del, NC_000002.12:g.9275098dup, NC_000002.12:g.9275097_9275098dup, NC_000002.12:g.9275096_9275098dup, NC_000002.12:g.9275095_9275098dup, NC_000002.12:g.9275094_9275098dup, NC_000002.12:g.9275093_9275098dup, NC_000002.12:g.9275092_9275098dup, NC_000002.12:g.9275091_9275098dup, NC_000002.12:g.9275090_9275098dup, NC_000002.12:g.9275089_9275098dup, NC_000002.12:g.9275087_9275098dup, NC_000002.11:g.9415223_9415227del, NC_000002.11:g.9415224_9415227del, NC_000002.11:g.9415225_9415227del, NC_000002.11:g.9415226_9415227del, NC_000002.11:g.9415227del, NC_000002.11:g.9415227dup, NC_000002.11:g.9415226_9415227dup, NC_000002.11:g.9415225_9415227dup, NC_000002.11:g.9415224_9415227dup, NC_000002.11:g.9415223_9415227dup, NC_000002.11:g.9415222_9415227dup, NC_000002.11:g.9415221_9415227dup, NC_000002.11:g.9415220_9415227dup, NC_000002.11:g.9415219_9415227dup, NC_000002.11:g.9415218_9415227dup, NC_000002.11:g.9415216_9415227dup

Select item 14915243244.

rs1491524324 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:9317136 (GRCh38)
2:9457265 (GRCh37)
Canonical SPDI:: NC_000002.12:9317130:ACACACA:ACACA,NC_000002.12:9317130:ACACACA:ACACACACA
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACA=0./0 (ALFA)
-=0.00022/1 (GnomAD)
HGVS:: NC_000002.12:g.9317132CA[2], NC_000002.12:g.9317132CA[4], NC_000002.11:g.9457261CA[2], NC_000002.11:g.9457261CA[4]

Select item 14915234495.

rs1491523449 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:9406087 (GRCh38)
2:9546216 (GRCh37)
Canonical SPDI:: NC_000002.12:9406085:TTT:T
Gene:: ASAP2 (Varview), ITGB1BP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
-=0.00011/8 (GnomAD)
HGVS:: NC_000002.12:g.9406087_9406088del, NC_000002.11:g.9546216_9546217del, NM_004763.5:c.*747_*748del, NM_004763.4:c.*747_*748del, NM_004763.3:c.*747_*748del, NM_022334.5:c.*747_*748del, NM_022334.4:c.*747_*748del, NM_022334.3:c.*747_*748del, XM_006711903.4:c.*747_*748del, XM_006711903.1:c.*747_*748del, XM_017005267.2:c.*747_*748del, XM_017005270.2:c.*747_*748del, NM_001369749.2:c.*747_*748del, NM_001369749.1:c.*747_*748del, NM_001319066.2:c.*747_*748del, NM_001319066.1:c.*747_*748del, NM_001319067.2:c.*747_*748del, NM_001319067.1:c.*747_*748del, NR_134952.2:n.1592_1593del, NR_134952.1:n.1633_1634del, NR_134955.2:n.1537_1538del, NR_134955.1:n.1578_1579del, NR_134954.2:n.1527_1528del, NR_134954.1:n.1568_1569del, NR_134951.2:n.1502_1503del, NR_134951.1:n.1571_1572del, NM_001319068.2:c.*747_*748del, NM_001319068.1:c.*747_*748del, NR_134956.2:n.1462_1463del, NR_134956.1:n.1503_1504del, NR_134957.2:n.1434_1435del, NR_134957.1:n.1475_1476del, NM_001319069.2:c.*747_*748del, NM_001319069.1:c.*747_*748del, NM_001319070.2:c.*747_*748del, NM_001319070.1:c.*747_*748del, NR_134953.2:n.1284_1285del, NR_134953.1:n.1325_1326del, XM_047446336.1:c.*747_*748del, XM_047446337.1:c.*747_*748del, XM_047446338.1:c.*747_*748del, NM_001369748.1:c.*747_*748del, NM_001369745.1:c.*747_*748del, NM_001369746.1:c.*747_*748del, NM_001369744.1:c.*747_*748del, NM_001369747.1:c.*747_*748del, NM_001369750.1:c.*747_*748del

Select item 14915220876.

rs1491522087 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:9400286 (GRCh38)
2:9540415 (GRCh37)
Canonical SPDI:: NC_000002.12:9400285:TT:
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00004/4 (GnomAD)
HGVS:: NC_000002.12:g.9400286_9400287del, NC_000002.11:g.9540415_9540416del

Select item 14915063757.

rs1491506375 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:9352247 (GRCh38)
2:9492377 (GRCh37)
Canonical SPDI:: NC_000002.12:9352247::C
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00021/4 (TOMMO)
C=0.00027/25 (GnomAD)
HGVS:: NC_000002.12:g.9352247_9352248insC, NC_000002.11:g.9492376_9492377insC

Select item 14915029188.

rs1491502918 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:9278512 (GRCh38)
2:9418641 (GRCh37)
Canonical SPDI:: NC_000002.12:9278511:CA:
Gene:: ASAP2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.9278512_9278513del, NC_000002.11:g.9418641_9418642del

Select item 14914963069.

rs1491496306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAA [Show Flanks]
Chromosome:: 2:9387214 (GRCh38)
2:9527344 (GRCh37)
Canonical SPDI:: NC_000002.12:9387214:AAAAAAAA:AAAAAAAACAAAAAAAA
Gene:: ASAP2 (Varview), LOC124907730 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAACAAAAAAAA=0./0 (ALFA)
AAAAAAAAC=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.9387215_9387222A[8]CAAAAAAAA[1], NC_000002.11:g.9527344_9527351A[8]CAAAAAAAA[1], XR_007086203.1:n.967_974T[8]GTTTTTTTT[1]

Select item 149147031910.

rs1491470319 has merged into rs34528995 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:9258345 (GRCh38)
2:9398474 (GRCh37)
Canonical SPDI:: NC_000002.12:9258335:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:9258335:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:9258335:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:9258335:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:9258335:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:9258335:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.9258345_9258353del, NC_000002.12:g.9258352_9258353del, NC_000002.12:g.9258353del, NC_000002.12:g.9258353dup, NC_000002.12:g.9258352_9258353dup, NC_000002.12:g.9258351_9258353dup, NC_000002.11:g.9398474_9398482del, NC_000002.11:g.9398481_9398482del, NC_000002.11:g.9398482del, NC_000002.11:g.9398482dup, NC_000002.11:g.9398481_9398482dup, NC_000002.11:g.9398480_9398482dup

Select item 149144395011.

rs1491443950 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:9205656 (GRCh38)
2:9345786 (GRCh37)
Canonical SPDI:: NC_000002.12:9205656:T:TT
Gene:: ASAP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.9205657dup, NC_000002.11:g.9345786dup

Select item 149142829812.

rs1491428298 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:9352248 (GRCh38)
2:9492377 (GRCh37)
Canonical SPDI:: NC_000002.12:9352246:AAA:A
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000909/112 (GnomAD)
HGVS:: NC_000002.12:g.9352248_9352249del, NC_000002.11:g.9492377_9492378del

Select item 149141909413.

rs1491419094 [Homo sapiens]

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

Select item 149141784314.

rs1491417843 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCCCCCTCCCC,GCCCCCTTCCCC [Show Flanks]
Chromosome:: 2:9400286 (GRCh38)
2:9540416 (GRCh37)
Canonical SPDI:: NC_000002.12:9400286::GCCCCCTCCCC,NC_000002.12:9400286::GCCCCCTTCCCC
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCCCTCCCC=0.0005/2 (ALFA)
HGVS:: NC_000002.12:g.9400286_9400287insGCCCCCTCCCC, NC_000002.12:g.9400286_9400287insGCCCCCTTCCCC, NC_000002.11:g.9540415_9540416insGCCCCCTCCCC, NC_000002.11:g.9540415_9540416insGCCCCCTTCCCC

Select item 149140500915.

rs1491405009 has merged into rs70948809 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:9211168 (GRCh38)
2:9351297 (GRCh37)
Canonical SPDI:: NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:9211155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.9211168_9211171del, NC_000002.12:g.9211169_9211171del, NC_000002.12:g.9211170_9211171del, NC_000002.12:g.9211171del, NC_000002.12:g.9211171dup, NC_000002.12:g.9211170_9211171dup, NC_000002.12:g.9211164_9211171dup, NC_000002.11:g.9351297_9351300del, NC_000002.11:g.9351298_9351300del, NC_000002.11:g.9351299_9351300del, NC_000002.11:g.9351300del, NC_000002.11:g.9351300dup, NC_000002.11:g.9351299_9351300dup, NC_000002.11:g.9351293_9351300dup

Select item 149140377116.

rs1491403771 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC,GC [Show Flanks]
Chromosome:: 2:9317131 (GRCh38)
2:9457261 (GRCh37)
Canonical SPDI:: NC_000002.12:9317131:C:CCC,NC_000002.12:9317131:C:CGC
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00021/1 (GnomAD)
HGVS:: NC_000002.12:g.9317132_9317133insCC, NC_000002.12:g.9317132_9317133insGC, NC_000002.11:g.9457261_9457262insCC, NC_000002.11:g.9457261_9457262insGC

Select item 149140278217.

rs1491402782 has merged into rs1553328889 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:9387078 (GRCh38)
2:9527207 (GRCh37)
Canonical SPDI:: NC_000002.12:9387076:GTG:G
Gene:: ASAP2 (Varview), LOC124907730 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000002.12:g.9387078_9387079del, NC_000002.11:g.9527207_9527208del, XR_007086203.1:n.1111_1112del

Select item 149139346218.

rs1491393462 [Homo sapiens]

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

Select item 149138860919.

rs1491388609 has merged into rs34360769 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:9314933 (GRCh38)
2:9455062 (GRCh37)
Canonical SPDI:: NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:9314922:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.1803/903 (1000Genomes)
HGVS:: NC_000002.12:g.9314933_9314943del, NC_000002.12:g.9314934_9314943del, NC_000002.12:g.9314935_9314943del, NC_000002.12:g.9314936_9314943del, NC_000002.12:g.9314937_9314943del, NC_000002.12:g.9314938_9314943del, NC_000002.12:g.9314939_9314943del, NC_000002.12:g.9314940_9314943del, NC_000002.12:g.9314941_9314943del, NC_000002.12:g.9314942_9314943del, NC_000002.12:g.9314943del, NC_000002.12:g.9314943dup, NC_000002.12:g.9314938_9314943dup, NC_000002.11:g.9455062_9455072del, NC_000002.11:g.9455063_9455072del, NC_000002.11:g.9455064_9455072del, NC_000002.11:g.9455065_9455072del, NC_000002.11:g.9455066_9455072del, NC_000002.11:g.9455067_9455072del, NC_000002.11:g.9455068_9455072del, NC_000002.11:g.9455069_9455072del, NC_000002.11:g.9455070_9455072del, NC_000002.11:g.9455071_9455072del, NC_000002.11:g.9455072del, NC_000002.11:g.9455072dup, NC_000002.11:g.9455067_9455072dup

Select item 149138528420.

rs1491385284 has merged into rs556978805 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:9286442 (GRCh38)
2:9426571 (GRCh37)
Canonical SPDI:: NC_000002.12:9286437:AAAAAAAAAAA:AAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:9286437:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ASAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.12167/73 (NorthernSweden)
HGVS:: NC_000002.12:g.9286442_9286448del, NC_000002.12:g.9286444_9286448del, NC_000002.12:g.9286445_9286448del, NC_000002.12:g.9286446_9286448del, NC_000002.12:g.9286447_9286448del, NC_000002.12:g.9286448del, NC_000002.12:g.9286448dup, NC_000002.12:g.9286447_9286448dup, NC_000002.12:g.9286446_9286448dup, NC_000002.12:g.9286445_9286448dup, NC_000002.12:g.9286444_9286448dup, NC_000002.12:g.9286443_9286448dup, NC_000002.11:g.9426571_9426577del, NC_000002.11:g.9426573_9426577del, NC_000002.11:g.9426574_9426577del, NC_000002.11:g.9426575_9426577del, NC_000002.11:g.9426576_9426577del, NC_000002.11:g.9426577del, NC_000002.11:g.9426577dup, NC_000002.11:g.9426576_9426577dup, NC_000002.11:g.9426575_9426577dup, NC_000002.11:g.9426574_9426577dup, NC_000002.11:g.9426573_9426577dup, NC_000002.11:g.9426572_9426577dup

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