SNP Links for Gene (Select 1889) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915612531.

rs1491561253 has merged into rs1378720409 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:21312142 (GRCh38)
1:21638635 (GRCh37)
Canonical SPDI:: NC_000001.11:21312141:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:21312141:TTTTTTTTTT:TTTTTTTTTTT
Gene:: ECE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00382/7 (Korea1K)
HGVS:: NC_000001.11:g.21312151del, NC_000001.11:g.21312151dup, NC_000001.10:g.21638644del, NC_000001.10:g.21638644dup, NG_013008.2:g.38400del, NG_013008.2:g.38400dup

Select item 14914854662.

rs1491485466 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:21342459 (GRCh38)
1:21668952 (GRCh37)
Canonical SPDI:: NC_000001.11:21342458:AG:
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000162/3 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000107/15 (GnomAD)
-=0.000132/35 (TOPMED)
-=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.21342459_21342460del, NC_000001.10:g.21668952_21668953del, NG_013008.2:g.8082_8083del

Select item 14914835183.

rs1491483518 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCT,CCTTT,CG,CT,CTT,CTTT,CTTTT,CTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:21264320 (GRCh38)
1:21590814 (GRCh37)
Canonical SPDI:: NC_000001.11:21264320::CCT,NC_000001.11:21264320::CCTTT,NC_000001.11:21264320::CG,NC_000001.11:21264320::CT,NC_000001.11:21264320::CTT,NC_000001.11:21264320::CTTT,NC_000001.11:21264320::CTTTT,NC_000001.11:21264320::CTTTTTTTTTTTT
Gene:: ECE1 (Varview), LOC124903872 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
CCT=0.000004/1 (TOPMED)
CCT=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.21264320_21264321insCCT, NC_000001.11:g.21264320_21264321insCCTTT, NC_000001.11:g.21264320_21264321insCG, NC_000001.11:g.21264320_21264321insCT, NC_000001.11:g.21264320_21264321insCTT, NC_000001.11:g.21264320_21264321insCTTT, NC_000001.11:g.21264320_21264321insCTTTT, NC_000001.11:g.21264320_21264321insCTTTTTTTTTTTT, NC_000001.10:g.21590813_21590814insCCT, NC_000001.10:g.21590813_21590814insCCTTT, NC_000001.10:g.21590813_21590814insCG, NC_000001.10:g.21590813_21590814insCT, NC_000001.10:g.21590813_21590814insCTT, NC_000001.10:g.21590813_21590814insCTTT, NC_000001.10:g.21590813_21590814insCTTTT, NC_000001.10:g.21590813_21590814insCTTTTTTTTTTTT, NG_013008.2:g.86221_86222insAGG, NG_013008.2:g.86221_86222insAAAGG, NG_013008.2:g.86221_86222insCG, NG_013008.2:g.86221_86222insAG, NG_013008.2:g.86221_86222insAAG, NG_013008.2:g.86221_86222insAAAG, NG_013008.2:g.86221_86222insAAAAG, NG_013008.2:g.86221_86222insAAAAAAAAAAAAG

Select item 14914775074.

rs1491477507 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 1:21264318 (GRCh38)
1:21590812 (GRCh37)
Canonical SPDI:: NC_000001.11:21264318::A,NC_000001.11:21264318::G,NC_000001.11:21264318::T
Gene:: ECE1 (Varview), LOC124903872 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.21264318_21264319insA, NC_000001.11:g.21264318_21264319insG, NC_000001.11:g.21264318_21264319insT, NC_000001.10:g.21590811_21590812insA, NC_000001.10:g.21590811_21590812insG, NC_000001.10:g.21590811_21590812insT, NG_013008.2:g.86223_86224insT, NG_013008.2:g.86223_86224insC, NG_013008.2:g.86223_86224insA

Select item 14914517845.

rs1491451784 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:21333351 (GRCh38)
1:21659844 (GRCh37)
Canonical SPDI:: NC_000001.11:21333349:GTG:G
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.21333351_21333352del, NC_000001.10:g.21659844_21659845del, NG_013008.2:g.17191_17192del

Select item 14914378856.

rs1491437885 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:21264310 (GRCh38)
1:21590804 (GRCh37)
Canonical SPDI:: NC_000001.11:21264310::A
Gene:: ECE1 (Varview), LOC124903872 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.21264310_21264311insA, NC_000001.10:g.21590803_21590804insA, NG_013008.2:g.86231_86232insT

Select item 14914176527.

rs1491417652 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:21346038 (GRCh38)
1:21672531 (GRCh37)
Canonical SPDI:: NC_000001.11:21346034:TATAT:TAT
Gene:: ECE1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.21346036AT[1], NC_000001.10:g.21672529AT[1], NG_013008.2:g.4504TA[1]

Select item 14914014948.

rs1491401494 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:21264309 (GRCh38)
1:21590802 (GRCh37)
Canonical SPDI:: NC_000001.11:21264308:TC:
Gene:: ECE1 (Varview), LOC124903872 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.21264309_21264310del, NC_000001.10:g.21590802_21590803del, NG_013008.2:g.86232_86233del

Select item 14913804999.

rs1491380499 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:21328764 (GRCh38)
1:21655257 (GRCh37)
Canonical SPDI:: NC_000001.11:21328763:GA:
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.21328764_21328765del, NC_000001.10:g.21655257_21655258del, NG_013008.2:g.21777_21778del

Select item 149130569910.

rs1491305699 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:21312141 (GRCh38)
1:21638634 (GRCh37)
Canonical SPDI:: NC_000001.11:21312140:AT:
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003368/55 (ALFA)
-=0.004203/553 (GnomAD)
HGVS:: NC_000001.11:g.21312141_21312142del, NC_000001.10:g.21638634_21638635del, NG_013008.2:g.38400_38401del

Select item 149129340311.

rs1491293403 has merged into rs34057869 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:21312134 (GRCh38)
1:21638627 (GRCh37)
Canonical SPDI:: NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4459/2233 (1000Genomes)
HGVS:: NC_000001.11:g.21312134_21312141del, NC_000001.11:g.21312136_21312141del, NC_000001.11:g.21312137_21312141del, NC_000001.11:g.21312138_21312141del, NC_000001.11:g.21312139_21312141del, NC_000001.11:g.21312140_21312141del, NC_000001.11:g.21312141del, NC_000001.11:g.21312141dup, NC_000001.11:g.21312140_21312141dup, NC_000001.10:g.21638627_21638634del, NC_000001.10:g.21638629_21638634del, NC_000001.10:g.21638630_21638634del, NC_000001.10:g.21638631_21638634del, NC_000001.10:g.21638632_21638634del, NC_000001.10:g.21638633_21638634del, NC_000001.10:g.21638634del, NC_000001.10:g.21638634dup, NC_000001.10:g.21638633_21638634dup, NG_013008.2:g.38412_38419del, NG_013008.2:g.38414_38419del, NG_013008.2:g.38415_38419del, NG_013008.2:g.38416_38419del, NG_013008.2:g.38417_38419del, NG_013008.2:g.38418_38419del, NG_013008.2:g.38419del, NG_013008.2:g.38419dup, NG_013008.2:g.38418_38419dup

Select item 149127765212.

rs1491277652 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:21312122 (GRCh38)
1:21638615 (GRCh37)
Canonical SPDI:: NC_000001.11:21312121:CA:
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.21312122_21312123del, NC_000001.10:g.21638615_21638616del, NG_013008.2:g.38419_38420del

Select item 149125968513.

rs1491259685 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:21254068 (GRCh38)
1:21580561 (GRCh37)
Canonical SPDI:: NC_000001.11:21254067:CA:
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0102/121 (ALFA)
-=0.00137/38 (TOMMO)
HGVS:: NC_000001.11:g.21254068_21254069del, NC_000001.10:g.21580561_21580562del, NG_013008.2:g.96473_96474del

Select item 149124160214.

rs1491241602 has merged into rs11373995 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 1:21257793 (GRCh38)
1:21584286 (GRCh37)
Canonical SPDI:: NC_000001.11:21257785:CCCCCCCCC:CCCCCCC,NC_000001.11:21257785:CCCCCCCCC:CCCCCCCC,NC_000001.11:21257785:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:21257785:CCCCCCCCC:CCCCCCCCCCC,NC_000001.11:21257785:CCCCCCCCC:CCCCCCCCCCCC
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.03748/162 (1000Genomes)
HGVS:: NC_000001.11:g.21257793_21257794del, NC_000001.11:g.21257794del, NC_000001.11:g.21257794dup, NC_000001.11:g.21257793_21257794dup, NC_000001.11:g.21257792_21257794dup, NC_000001.10:g.21584286_21584287del, NC_000001.10:g.21584287del, NC_000001.10:g.21584287dup, NC_000001.10:g.21584286_21584287dup, NC_000001.10:g.21584285_21584287dup, NG_013008.2:g.92755_92756del, NG_013008.2:g.92756del, NG_013008.2:g.92756dup, NG_013008.2:g.92755_92756dup, NG_013008.2:g.92754_92756dup

Select item 149117794815.

rs1491177948 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:21246515 (GRCh38)
1:21573008 (GRCh37)
Canonical SPDI:: NC_000001.11:21246513:AGA:A
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000001.11:g.21246515_21246516del, NC_000001.10:g.21573008_21573009del, NG_013008.2:g.104027_104028del

Select item 149116271116.

rs1491162711 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:21346035 (GRCh38)
1:21672529 (GRCh37)
Canonical SPDI:: NC_000001.11:21346035::G
Gene:: ECE1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00067/3 (ALFA)
G=0.00015/3 (TOMMO)
HGVS:: NC_000001.11:g.21346035_21346036insG, NC_000001.10:g.21672528_21672529insG, NG_013008.2:g.4506_4507insC

Select item 149113590017.

rs1491135900 has merged into rs57691016 [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 [Show Flanks]
Chromosome:: 1:21254078 (GRCh38)
1:21580571 (GRCh37)
Canonical SPDI:: NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:21254068:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.21254078_21254092del, NC_000001.11:g.21254079_21254092del, NC_000001.11:g.21254080_21254092del, NC_000001.11:g.21254081_21254092del, NC_000001.11:g.21254082_21254092del, NC_000001.11:g.21254083_21254092del, NC_000001.11:g.21254084_21254092del, NC_000001.11:g.21254085_21254092del, NC_000001.11:g.21254086_21254092del, NC_000001.11:g.21254087_21254092del, NC_000001.11:g.21254088_21254092del, NC_000001.11:g.21254089_21254092del, NC_000001.11:g.21254090_21254092del, NC_000001.11:g.21254091_21254092del, NC_000001.11:g.21254092del, NC_000001.11:g.21254092dup, NC_000001.11:g.21254091_21254092dup, NC_000001.11:g.21254090_21254092dup, NC_000001.11:g.21254089_21254092dup, NC_000001.10:g.21580571_21580585del, NC_000001.10:g.21580572_21580585del, NC_000001.10:g.21580573_21580585del, NC_000001.10:g.21580574_21580585del, NC_000001.10:g.21580575_21580585del, NC_000001.10:g.21580576_21580585del, NC_000001.10:g.21580577_21580585del, NC_000001.10:g.21580578_21580585del, NC_000001.10:g.21580579_21580585del, NC_000001.10:g.21580580_21580585del, NC_000001.10:g.21580581_21580585del, NC_000001.10:g.21580582_21580585del, NC_000001.10:g.21580583_21580585del, NC_000001.10:g.21580584_21580585del, NC_000001.10:g.21580585del, NC_000001.10:g.21580585dup, NC_000001.10:g.21580584_21580585dup, NC_000001.10:g.21580583_21580585dup, NC_000001.10:g.21580582_21580585dup, NG_013008.2:g.96459_96473del, NG_013008.2:g.96460_96473del, NG_013008.2:g.96461_96473del, NG_013008.2:g.96462_96473del, NG_013008.2:g.96463_96473del, NG_013008.2:g.96464_96473del, NG_013008.2:g.96465_96473del, NG_013008.2:g.96466_96473del, NG_013008.2:g.96467_96473del, NG_013008.2:g.96468_96473del, NG_013008.2:g.96469_96473del, NG_013008.2:g.96470_96473del, NG_013008.2:g.96471_96473del, NG_013008.2:g.96472_96473del, NG_013008.2:g.96473del, NG_013008.2:g.96473dup, NG_013008.2:g.96472_96473dup, NG_013008.2:g.96471_96473dup, NG_013008.2:g.96470_96473dup

Select item 149113397118.

rs1491133971 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:21333350 (GRCh38)
1:21659844 (GRCh37)
Canonical SPDI:: NC_000001.11:21333350:T:TT
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.21333351dup, NC_000001.10:g.21659844dup, NG_013008.2:g.17191dup

Select item 149106394719.

rs1491063947 has merged into rs71014176 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:21249952 (GRCh38)
1:21576445 (GRCh37)
Canonical SPDI:: NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.16194/811 (1000Genomes)
HGVS:: NC_000001.11:g.21249952_21249958del, NC_000001.11:g.21249953_21249958del, NC_000001.11:g.21249955_21249958del, NC_000001.11:g.21249956_21249958del, NC_000001.11:g.21249957_21249958del, NC_000001.11:g.21249958del, NC_000001.11:g.21249958dup, NC_000001.11:g.21249957_21249958dup, NC_000001.11:g.21249956_21249958dup, NC_000001.11:g.21249955_21249958dup, NC_000001.11:g.21249954_21249958dup, NC_000001.11:g.21249953_21249958dup, NC_000001.10:g.21576445_21576451del, NC_000001.10:g.21576446_21576451del, NC_000001.10:g.21576448_21576451del, NC_000001.10:g.21576449_21576451del, NC_000001.10:g.21576450_21576451del, NC_000001.10:g.21576451del, NC_000001.10:g.21576451dup, NC_000001.10:g.21576450_21576451dup, NC_000001.10:g.21576449_21576451dup, NC_000001.10:g.21576448_21576451dup, NC_000001.10:g.21576447_21576451dup, NC_000001.10:g.21576446_21576451dup, NG_013008.2:g.100596_100602del, NG_013008.2:g.100597_100602del, NG_013008.2:g.100599_100602del, NG_013008.2:g.100600_100602del, NG_013008.2:g.100601_100602del, NG_013008.2:g.100602del, NG_013008.2:g.100602dup, NG_013008.2:g.100601_100602dup, NG_013008.2:g.100600_100602dup, NG_013008.2:g.100599_100602dup, NG_013008.2:g.100598_100602dup, NG_013008.2:g.100597_100602dup

Select item 149105869820.

rs1491058698 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:21282939 (GRCh38)
1:21609433 (GRCh37)
Canonical SPDI:: NC_000001.11:21282939::A
Gene:: ECE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.21282939_21282940insA, NC_000001.10:g.21609432_21609433insA, NG_013008.2:g.67602_67603insT

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity