SNP Links for Gene (Select 100507381) - SNP

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Select item 14915866981.

rs1491586698 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:72655026 (GRCh38)
6:73364754 (GRCh37)
Canonical SPDI:: NC_000006.12:72655024:TGT:T
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000006.12:g.72655026_72655027del, NC_000006.11:g.73364754_73364755del, NG_047170.1:g.38747_38748del

Select item 14914390572.

rs1491439057 has merged into rs1472629412 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCTCT,CTGTCT [Show Flanks]
Chromosome:: 6:72655032 (GRCh38)
6:73364760 (GRCh37)
Canonical SPDI:: NC_000006.12:72655030:TCT:T,NC_000006.12:72655030:TCT:TCTCTCT,NC_000006.12:72655030:TCT:TCTGTCT
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTCT=0./0 (ALFA)
TCTG=0.00015/6 (GnomAD)
HGVS:: NC_000006.12:g.72655032_72655033del, NC_000006.12:g.72655032CT[3], NC_000006.12:g.72655033_72655034insGTCT, NC_000006.11:g.73364760_73364761del, NC_000006.11:g.73364760CT[3], NC_000006.11:g.73364761_73364762insGTCT, NG_047170.1:g.38753_38754del, NG_047170.1:g.38753CT[3], NG_047170.1:g.38754_38755insGTCT

Select item 14913717193.

rs1491371719 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:72660872 (GRCh38)
6:73370601 (GRCh37)
Canonical SPDI:: NC_000006.12:72660872::A
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.72660872_72660873insA, NC_000006.11:g.73370600_73370601insA, NG_047170.1:g.44593_44594insA

Select item 14913630954.

rs1491363095 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:72629402 (GRCh38)
6:73339130 (GRCh37)
Canonical SPDI:: NC_000006.12:72629401:TC:
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00009/1 (ALFA)
HGVS:: NC_000006.12:g.72629402_72629403del, NC_000006.11:g.73339130_73339131del, NG_047170.1:g.13123_13124del

Select item 14913505925.

rs1491350592 has merged into rs1219877866 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:72658590 (GRCh38)
6:73368318 (GRCh37)
Canonical SPDI:: NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:72658578:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.72658590_72658598del, NC_000006.12:g.72658591_72658598del, NC_000006.12:g.72658592_72658598del, NC_000006.12:g.72658593_72658598del, NC_000006.12:g.72658594_72658598del, NC_000006.12:g.72658595_72658598del, NC_000006.12:g.72658596_72658598del, NC_000006.12:g.72658597_72658598del, NC_000006.12:g.72658598del, NC_000006.12:g.72658598dup, NC_000006.12:g.72658597_72658598dup, NC_000006.12:g.72658596_72658598dup, NC_000006.12:g.72658595_72658598dup, NC_000006.12:g.72658594_72658598dup, NC_000006.12:g.72658593_72658598dup, NC_000006.12:g.72658592_72658598dup, NC_000006.12:g.72658591_72658598dup, NC_000006.11:g.73368318_73368326del, NC_000006.11:g.73368319_73368326del, NC_000006.11:g.73368320_73368326del, NC_000006.11:g.73368321_73368326del, NC_000006.11:g.73368322_73368326del, NC_000006.11:g.73368323_73368326del, NC_000006.11:g.73368324_73368326del, NC_000006.11:g.73368325_73368326del, NC_000006.11:g.73368326del, NC_000006.11:g.73368326dup, NC_000006.11:g.73368325_73368326dup, NC_000006.11:g.73368324_73368326dup, NC_000006.11:g.73368323_73368326dup, NC_000006.11:g.73368322_73368326dup, NC_000006.11:g.73368321_73368326dup, NC_000006.11:g.73368320_73368326dup, NC_000006.11:g.73368319_73368326dup, NG_047170.1:g.42311_42319del, NG_047170.1:g.42312_42319del, NG_047170.1:g.42313_42319del, NG_047170.1:g.42314_42319del, NG_047170.1:g.42315_42319del, NG_047170.1:g.42316_42319del, NG_047170.1:g.42317_42319del, NG_047170.1:g.42318_42319del, NG_047170.1:g.42319del, NG_047170.1:g.42319dup, NG_047170.1:g.42318_42319dup, NG_047170.1:g.42317_42319dup, NG_047170.1:g.42316_42319dup, NG_047170.1:g.42315_42319dup, NG_047170.1:g.42314_42319dup, NG_047170.1:g.42313_42319dup, NG_047170.1:g.42312_42319dup

Select item 14912888796.

rs1491288879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 6:72645724 (GRCh38)
6:73355453 (GRCh37)
Canonical SPDI:: NC_000006.12:72645724:AGAG:AGAGAG
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0.000285/4 (ALFA)
AG=0.000121/17 (GnomAD)
AG=0.000166/44 (TOPMED)
HGVS:: NC_000006.12:g.72645725AG[3], NC_000006.11:g.73355453AG[3], NG_047170.1:g.29446AG[3]

Select item 14911990067.

rs1491199006 has merged into rs66526018 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 6:72652251 (GRCh38)
6:73361979 (GRCh37)
Canonical SPDI:: NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:72652240:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.72652251_72652257del, NC_000006.12:g.72652253_72652257del, NC_000006.12:g.72652254_72652257del, NC_000006.12:g.72652255_72652257del, NC_000006.12:g.72652256_72652257del, NC_000006.12:g.72652257del, NC_000006.12:g.72652257dup, NC_000006.12:g.72652256_72652257dup, NC_000006.12:g.72652255_72652257dup, NC_000006.11:g.73361979_73361985del, NC_000006.11:g.73361981_73361985del, NC_000006.11:g.73361982_73361985del, NC_000006.11:g.73361983_73361985del, NC_000006.11:g.73361984_73361985del, NC_000006.11:g.73361985del, NC_000006.11:g.73361985dup, NC_000006.11:g.73361984_73361985dup, NC_000006.11:g.73361983_73361985dup, NG_047170.1:g.35972_35978del, NG_047170.1:g.35974_35978del, NG_047170.1:g.35975_35978del, NG_047170.1:g.35976_35978del, NG_047170.1:g.35977_35978del, NG_047170.1:g.35978del, NG_047170.1:g.35978dup, NG_047170.1:g.35977_35978dup, NG_047170.1:g.35976_35978dup

Select item 14911753898.

rs1491175389 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:72660875 (GRCh38)
6:73370603 (GRCh37)
Canonical SPDI:: NC_000006.12:72660871:TGTGT:TGT
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.72660873GT[1], NC_000006.11:g.73370601GT[1], NG_047170.1:g.44594GT[1]

Select item 14911586909.

rs1491158690 has merged into rs66478642 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 6:72648791 (GRCh38)
6:73358519 (GRCh37)
Canonical SPDI:: NC_000006.12:72648790:AA:A,NC_000006.12:72648790:AA:AAA
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.0104/174 (TOMMO)
-=0.14051/521 (TWINSUK)
HGVS:: NC_000006.12:g.72648792del, NC_000006.12:g.72648792dup, NC_000006.11:g.73358520del, NC_000006.11:g.73358520dup, NG_047170.1:g.32513del, NG_047170.1:g.32513dup

Select item 149115685310.

rs1491156853 [Homo sapiens]

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

Select item 149109697311.

rs1491096973 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,GA [Show Flanks]
Chromosome:: 6:72665340 (GRCh38)
6:73375065 (GRCh37)
Canonical SPDI:: NC_000006.12:72665340::A,NC_000006.12:72665340::AA,NC_000006.12:72665340::AAA,NC_000006.12:72665340::GA
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.00901/335 (GnomAD)
HGVS:: NC_000006.12:g.72665340_72665341insA, NC_000006.12:g.72665340_72665341insAA, NC_000006.12:g.72665340_72665341insAAA, NC_000006.12:g.72665340_72665341insGA, NC_000006.11:g.73375064_73375065insA, NC_000006.11:g.73375064_73375065insAA, NC_000006.11:g.73375064_73375065insAAA, NC_000006.11:g.73375064_73375065insGA, NG_047170.1:g.49061_49062insA, NG_047170.1:g.49061_49062insAA, NG_047170.1:g.49061_49062insAAA, NG_047170.1:g.49061_49062insGA

Select item 149107010312.

rs1491070103 has merged into rs35194114 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:72662615 (GRCh38)
6:73372343 (GRCh37)
Canonical SPDI:: NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:72662604:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.0001/1 (ALFA)
-=0.4088/1824 (1000Genomes)
HGVS:: NC_000006.12:g.72662615_72662616del, NC_000006.12:g.72662616del, NC_000006.12:g.72662616dup, NC_000006.12:g.72662615_72662616dup, NC_000006.12:g.72662614_72662616dup, NC_000006.12:g.72662612_72662616dup, NC_000006.12:g.72662605_72662616dup, NC_000006.11:g.73372343_73372344del, NC_000006.11:g.73372344del, NC_000006.11:g.73372344dup, NC_000006.11:g.73372343_73372344dup, NC_000006.11:g.73372342_73372344dup, NC_000006.11:g.73372340_73372344dup, NC_000006.11:g.73372333_73372344dup, NG_047170.1:g.46336_46337del, NG_047170.1:g.46337del, NG_047170.1:g.46337dup, NG_047170.1:g.46336_46337dup, NG_047170.1:g.46335_46337dup, NG_047170.1:g.46333_46337dup, NG_047170.1:g.46326_46337dup

Select item 149106038813.

rs1491060388 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:72666327 (GRCh38)
6:73376051 (GRCh37)
Canonical SPDI:: NC_000006.12:72666326:CT:
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.72666327_72666328del, NC_000006.11:g.73376051_73376052del, NG_047170.1:g.50048_50049del

Select item 149101938214.

rs1491019382 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:72632155 (GRCh38)
6:73341883 (GRCh37)
Canonical SPDI:: NC_000006.12:72632154:TG:
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.72632155_72632156del, NC_000006.11:g.73341883_73341884del, NG_047170.1:g.15876_15877del

Select item 149089448915.

rs1490894489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:72635757 (GRCh38)
6:73345485 (GRCh37)
Canonical SPDI:: NC_000006.12:72635756:G:A,NC_000006.12:72635756:G:T
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.72635757G>A, NC_000006.12:g.72635757G>T, NC_000006.11:g.73345485G>A, NC_000006.11:g.73345485G>T, NG_047170.1:g.19478G>A, NG_047170.1:g.19478G>T

Select item 149085773316.

rs1490857733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:72668047 (GRCh38)
6:73377771 (GRCh37)
Canonical SPDI:: NC_000006.12:72668046:G:A,NC_000006.12:72668046:G:T
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.72668047G>A, NC_000006.12:g.72668047G>T, NC_000006.11:g.73377771G>A, NC_000006.11:g.73377771G>T, NG_047170.1:g.51768G>A, NG_047170.1:g.51768G>T

Select item 149061202617.

rs1490612026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:72634097 (GRCh38)
6:73343825 (GRCh37)
Canonical SPDI:: NC_000006.12:72634096:G:T
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.72634097G>T, NC_000006.11:g.73343825G>T, NG_047170.1:g.17818G>T

Select item 149057492918.

rs1490574929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:72661663 (GRCh38)
6:73371391 (GRCh37)
Canonical SPDI:: NC_000006.12:72661662:T:G
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.72661663T>G, NC_000006.11:g.73371391T>G, NG_047170.1:g.45384T>G

Select item 149055840619.

rs1490558406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:72672276 (GRCh38)
6:73382000 (GRCh37)
Canonical SPDI:: NC_000006.12:72672275:T:G
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.72672276T>G, NC_000006.11:g.73382000T>G, NG_047170.1:g.55997T>G

Select item 149037722220.

rs1490377222 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:72632141 (GRCh38)
6:73341870 (GRCh37)
Canonical SPDI:: NC_000006.12:72632141::C
Gene:: KCNQ5 (Varview), KCNQ5-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001517/18 (ALFA)
C=0.000073/1 (TOMMO)
C=0.000895/121 (GnomAD)
C=0.003435/22 (1000Genomes)
HGVS:: NC_000006.12:g.72632141_72632142insC, NC_000006.11:g.73341869_73341870insC, NG_047170.1:g.15862_15863insC

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