SNP Links for Gene (Select 102724508) - SNP

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Select item 14915793121.

rs1491579312 has merged into rs770739383 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:47322227 (GRCh38)
17:45399593 (GRCh37)
Canonical SPDI:: NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47322216:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000017.11:g.47322227_47322243del, NC_000017.11:g.47322229_47322243del, NC_000017.11:g.47322230_47322243del, NC_000017.11:g.47322231_47322243del, NC_000017.11:g.47322232_47322243del, NC_000017.11:g.47322233_47322243del, NC_000017.11:g.47322234_47322243del, NC_000017.11:g.47322235_47322243del, NC_000017.11:g.47322236_47322243del, NC_000017.11:g.47322237_47322243del, NC_000017.11:g.47322238_47322243del, NC_000017.11:g.47322239_47322243del, NC_000017.11:g.47322240_47322243del, NC_000017.11:g.47322241_47322243del, NC_000017.11:g.47322242_47322243del, NC_000017.11:g.47322243del, NC_000017.11:g.47322243dup, NC_000017.11:g.47322242_47322243dup, NC_000017.11:g.47322241_47322243dup, NC_000017.11:g.47322240_47322243dup, NC_000017.11:g.47322239_47322243dup, NC_000017.11:g.47322238_47322243dup, NC_000017.11:g.47322237_47322243dup, NC_000017.11:g.47322236_47322243dup, NC_000017.11:g.47322220_47322243dup, NC_000017.10:g.45399593_45399609del, NC_000017.10:g.45399595_45399609del, NC_000017.10:g.45399596_45399609del, NC_000017.10:g.45399597_45399609del, NC_000017.10:g.45399598_45399609del, NC_000017.10:g.45399599_45399609del, NC_000017.10:g.45399600_45399609del, NC_000017.10:g.45399601_45399609del, NC_000017.10:g.45399602_45399609del, NC_000017.10:g.45399603_45399609del, NC_000017.10:g.45399604_45399609del, NC_000017.10:g.45399605_45399609del, NC_000017.10:g.45399606_45399609del, NC_000017.10:g.45399607_45399609del, NC_000017.10:g.45399608_45399609del, NC_000017.10:g.45399609del, NC_000017.10:g.45399609dup, NC_000017.10:g.45399608_45399609dup, NC_000017.10:g.45399607_45399609dup, NC_000017.10:g.45399606_45399609dup, NC_000017.10:g.45399605_45399609dup, NC_000017.10:g.45399604_45399609dup, NC_000017.10:g.45399603_45399609dup, NC_000017.10:g.45399602_45399609dup, NC_000017.10:g.45399586_45399609dup, NG_008332.2:g.73386_73402del, NG_008332.2:g.73388_73402del, NG_008332.2:g.73389_73402del, NG_008332.2:g.73390_73402del, NG_008332.2:g.73391_73402del, NG_008332.2:g.73392_73402del, NG_008332.2:g.73393_73402del, NG_008332.2:g.73394_73402del, NG_008332.2:g.73395_73402del, NG_008332.2:g.73396_73402del, NG_008332.2:g.73397_73402del, NG_008332.2:g.73398_73402del, NG_008332.2:g.73399_73402del, NG_008332.2:g.73400_73402del, NG_008332.2:g.73401_73402del, NG_008332.2:g.73402del, NG_008332.2:g.73402dup, NG_008332.2:g.73401_73402dup, NG_008332.2:g.73400_73402dup, NG_008332.2:g.73399_73402dup, NG_008332.2:g.73398_73402dup, NG_008332.2:g.73397_73402dup, NG_008332.2:g.73396_73402dup, NG_008332.2:g.73395_73402dup, NG_008332.2:g.73379_73402dup

Select item 14915792892.

rs1491579289 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:47325055 (GRCh38)
17:45402421 (GRCh37)
Canonical SPDI:: NC_000017.11:47325051:TCTCT:TCT
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.47325053CT[1], NC_000017.10:g.45402419CT[1], NG_008332.2:g.76212CT[1]

Select item 14915380593.

rs1491538059 has merged into rs11319266 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 17:47314464 (GRCh38)
17:45391830 (GRCh37)
Canonical SPDI:: NC_000017.11:47314453:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:47314453:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:47314453:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.000127/1 (ALFA)
T=0.29891/1152 (ALSPAC)
T=0.308252/1143 (TWINSUK)
T=0.319366/84533 (TOPMED)
T=0.325/13 (GENOME_DK)
T=0.328333/197 (NorthernSweden)
T=0.404553/2026 (1000Genomes)
HGVS:: NC_000017.11:g.47314464_47314465del, NC_000017.11:g.47314465del, NC_000017.11:g.47314465dup, NC_000017.10:g.45391830_45391831del, NC_000017.10:g.45391831del, NC_000017.10:g.45391831dup, NG_008332.2:g.65623_65624del, NG_008332.2:g.65624del, NG_008332.2:g.65624dup

Select item 14915328634.

rs1491532863 has merged into rs36050468 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:47318089 (GRCh38)
17:45395455 (GRCh37)
Canonical SPDI:: NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47318079:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.47318089_47318103del, NC_000017.11:g.47318090_47318103del, NC_000017.11:g.47318091_47318103del, NC_000017.11:g.47318092_47318103del, NC_000017.11:g.47318093_47318103del, NC_000017.11:g.47318094_47318103del, NC_000017.11:g.47318095_47318103del, NC_000017.11:g.47318096_47318103del, NC_000017.11:g.47318097_47318103del, NC_000017.11:g.47318098_47318103del, NC_000017.11:g.47318099_47318103del, NC_000017.11:g.47318100_47318103del, NC_000017.11:g.47318101_47318103del, NC_000017.11:g.47318102_47318103del, NC_000017.11:g.47318103del, NC_000017.11:g.47318103dup, NC_000017.11:g.47318102_47318103dup, NC_000017.11:g.47318101_47318103dup, NC_000017.11:g.47318100_47318103dup, NC_000017.11:g.47318099_47318103dup, NC_000017.11:g.47318098_47318103dup, NC_000017.11:g.47318097_47318103dup, NC_000017.10:g.45395455_45395469del, NC_000017.10:g.45395456_45395469del, NC_000017.10:g.45395457_45395469del, NC_000017.10:g.45395458_45395469del, NC_000017.10:g.45395459_45395469del, NC_000017.10:g.45395460_45395469del, NC_000017.10:g.45395461_45395469del, NC_000017.10:g.45395462_45395469del, NC_000017.10:g.45395463_45395469del, NC_000017.10:g.45395464_45395469del, NC_000017.10:g.45395465_45395469del, NC_000017.10:g.45395466_45395469del, NC_000017.10:g.45395467_45395469del, NC_000017.10:g.45395468_45395469del, NC_000017.10:g.45395469del, NC_000017.10:g.45395469dup, NC_000017.10:g.45395468_45395469dup, NC_000017.10:g.45395467_45395469dup, NC_000017.10:g.45395466_45395469dup, NC_000017.10:g.45395465_45395469dup, NC_000017.10:g.45395464_45395469dup, NC_000017.10:g.45395463_45395469dup, NG_008332.2:g.69248_69262del, NG_008332.2:g.69249_69262del, NG_008332.2:g.69250_69262del, NG_008332.2:g.69251_69262del, NG_008332.2:g.69252_69262del, NG_008332.2:g.69253_69262del, NG_008332.2:g.69254_69262del, NG_008332.2:g.69255_69262del, NG_008332.2:g.69256_69262del, NG_008332.2:g.69257_69262del, NG_008332.2:g.69258_69262del, NG_008332.2:g.69259_69262del, NG_008332.2:g.69260_69262del, NG_008332.2:g.69261_69262del, NG_008332.2:g.69262del, NG_008332.2:g.69262dup, NG_008332.2:g.69261_69262dup, NG_008332.2:g.69260_69262dup, NG_008332.2:g.69259_69262dup, NG_008332.2:g.69258_69262dup, NG_008332.2:g.69257_69262dup, NG_008332.2:g.69256_69262dup

Select item 14915117315.

rs1491511731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTC [Show Flanks]
Chromosome:: 17:47325052 (GRCh38)
17:45402419 (GRCh37)
Canonical SPDI:: NC_000017.11:47325052:CTC:CTCGCTC
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCGCTC=0.000061/1 (ALFA)
CTCG=0.000129/15 (GnomAD)
CTCG=0.000142/4 (TOMMO)
CTCG=0.000225/1 (Estonian)
CTCG=0.000546/1 (Korea1K)
CTCG=0.000781/5 (1000Genomes)
HGVS:: NC_000017.11:g.47325055_47325056insGCTC, NC_000017.10:g.45402421_45402422insGCTC, NG_008332.2:g.76214_76215insGCTC

Select item 14914263016.

rs1491426301 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:47322216 (GRCh38)
17:45399582 (GRCh37)
Canonical SPDI:: NC_000017.11:47322215:CA:
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00059/16 (TOMMO)
HGVS:: NC_000017.11:g.47322216_47322217del, NC_000017.10:g.45399582_45399583del, NG_008332.2:g.73375_73376del

Select item 14912516037.

rs1491251603 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:47318079 (GRCh38)
17:45395445 (GRCh37)
Canonical SPDI:: NC_000017.11:47318078:CA:
Gene:: EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.47318079_47318080del, NC_000017.10:g.45395445_45395446del, NG_008332.2:g.69238_69239del

Select item 14910780428.

rs1491078042 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAA [Show Flanks]
Chromosome:: 17:47309897 (GRCh38)
17:45387264 (GRCh37)
Canonical SPDI:: NC_000017.11:47309897:AAAA:AAAAGAAAA
Gene:: ITGB3 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAGAAAA=0./0 (ALFA)
AAAAG=0.000004/1 (TOPMED)
AAAAG=0.000039/1 (GnomAD)
HGVS:: NC_000017.11:g.47309898_47309901A[4]GAAAA[1], NC_000017.10:g.45387264_45387267A[4]GAAAA[1], NG_008332.2:g.61057_61060A[4]GAAAA[1]

Select item 14905188939.

rs1490518893 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:47315848 (GRCh38)
17:45393214 (GRCh37)
Canonical SPDI:: NC_000017.11:47315845:AGAG:AG
Gene:: EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.47315846AG[1], NC_000017.10:g.45393212AG[1], NG_008332.2:g.67005AG[1]

Select item 149050846310.

rs1490508463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:47306243 (GRCh38)
17:45383609 (GRCh37)
Canonical SPDI:: NC_000017.11:47306242:C:A,NC_000017.11:47306242:C:T
Gene:: ITGB3 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.47306243C>A, NC_000017.11:g.47306243C>T, NC_000017.10:g.45383609C>A, NC_000017.10:g.45383609C>T, NG_008332.2:g.57402C>A, NG_008332.2:g.57402C>T

Select item 149047499811.

rs1490474998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:47324012 (GRCh38)
17:45401378 (GRCh37)
Canonical SPDI:: NC_000017.11:47324011:A:C,NC_000017.11:47324011:A:G
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.47324012A>C, NC_000017.11:g.47324012A>G, NC_000017.10:g.45401378A>C, NC_000017.10:g.45401378A>G, NG_008332.2:g.75171A>C, NG_008332.2:g.75171A>G, NM_152347.5:c.-380A>C, NM_152347.5:c.-380A>G, NM_152347.4:c.-380A>C, NM_152347.4:c.-380A>G, NM_001195192.2:c.-380A>C, NM_001195192.2:c.-380A>G, NM_001195192.1:c.-380A>C, NM_001195192.1:c.-380A>G

Select item 149046194812.

rs1490461948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:47307753 (GRCh38)
17:45385119 (GRCh37)
Canonical SPDI:: NC_000017.11:47307752:T:C
Gene:: ITGB3 (Varview), EFCAB13-DT (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_000017.11:g.47307753T>C, NC_000017.10:g.45385119T>C, NG_008332.2:g.58912T>C

Select item 149024087413.

rs1490240874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:47316039 (GRCh38)
17:45393405 (GRCh37)
Canonical SPDI:: NC_000017.11:47316038:A:G
Gene:: EFCAB13-DT (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_000017.11:g.47316039A>G, NC_000017.10:g.45393405A>G, NG_008332.2:g.67198A>G

Select item 149006733514.

rs1490067335 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACCATCTCTTTACCTCCTAATTCCA>- [Show Flanks]
Chromosome:: 17:47311033 (GRCh38)
17:45388399 (GRCh37)
Canonical SPDI:: NC_000017.11:47311029:CCAGCACCATCTCTTTACCTCCTAATTCCA:CCA
Gene:: ITGB3 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCA=0.000214/3 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.47311033_47311059del, NC_000017.10:g.45388399_45388425del, NG_008332.2:g.62192_62218del, NM_000212.3:c.*829_*855del, NM_000212.2:c.*829_*855del

Select item 148961792615.

rs1489617926 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:47315234 (GRCh38)
17:45392600 (GRCh37)
Canonical SPDI:: NC_000017.11:47315230:GTGTG:GTG
Gene:: EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000017.11:g.47315232TG[1], NC_000017.10:g.45392598TG[1], NG_008332.2:g.66391TG[1]

Select item 148944199016.

rs1489441990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:47319145 (GRCh38)
17:45396511 (GRCh37)
Canonical SPDI:: NC_000017.11:47319144:G:A
Gene:: EFCAB13-DT (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_000017.11:g.47319145G>A, NC_000017.10:g.45396511G>A, NG_008332.2:g.70304G>A

Select item 148933596117.

rs1489335961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:47323993 (GRCh38)
17:45401359 (GRCh37)
Canonical SPDI:: NC_000017.11:47323992:G:C,NC_000017.11:47323992:G:T
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.47323993G>C, NC_000017.11:g.47323993G>T, NC_000017.10:g.45401359G>C, NC_000017.10:g.45401359G>T, NG_008332.2:g.75152G>C, NG_008332.2:g.75152G>T, NM_152347.5:c.-399G>C, NM_152347.5:c.-399G>T, NM_152347.4:c.-399G>C, NM_152347.4:c.-399G>T, NM_001195192.2:c.-399G>C, NM_001195192.2:c.-399G>T, NM_001195192.1:c.-399G>C, NM_001195192.1:c.-399G>T

Select item 148866770718.

rs1488667707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:47323425 (GRCh38)
17:45400791 (GRCh37)
Canonical SPDI:: NC_000017.11:47323424:C:T
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.47323425C>T, NC_000017.10:g.45400791C>T, NG_008332.2:g.74584C>T

Select item 148863268919.

rs1488632689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:47306599 (GRCh38)
17:45383965 (GRCh37)
Canonical SPDI:: NC_000017.11:47306598:T:G
Gene:: ITGB3 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.47306599T>G, NC_000017.10:g.45383965T>G, NG_008332.2:g.57758T>G

Select item 148857527120.

rs1488575271 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:47322245 (GRCh38)
17:45399611 (GRCh37)
Canonical SPDI:: NC_000017.11:47322244:AA:
Gene:: EFCAB13 (Varview), EFCAB13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.47322245_47322246del, NC_000017.10:g.45399611_45399612del, NG_008332.2:g.73404_73405del

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