SNP Links for Gene (Select 10652) - SNP

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Select item 14913662691.

rs1491366269 has merged into rs3837149 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 7:44210691 (GRCh38)
7:44250290 (GRCh37)
Canonical SPDI:: NC_000007.14:44210680:CACACACACACACACACACA:CACACACACA,NC_000007.14:44210680:CACACACACACACACACACA:CACACACACACA,NC_000007.14:44210680:CACACACACACACACACACA:CACACACACACACA,NC_000007.14:44210680:CACACACACACACACACACA:CACACACACACACACA,NC_000007.14:44210680:CACACACACACACACACACA:CACACACACACACACACA,NC_000007.14:44210680:CACACACACACACACACACA:CACACACACACACACACACACA,NC_000007.14:44210680:CACACACACACACACACACA:CACACACACACACACACACACACA
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
-=0.0957/369 (ALSPAC)
-=0.132/311 (1000Genomes)
HGVS:: NC_000007.14:g.44210681CA[5], NC_000007.14:g.44210681CA[6], NC_000007.14:g.44210681CA[7], NC_000007.14:g.44210681CA[8], NC_000007.14:g.44210681CA[9], NC_000007.14:g.44210681CA[11], NC_000007.14:g.44210681CA[12], NC_000007.13:g.44250280CA[5], NC_000007.13:g.44250280CA[6], NC_000007.13:g.44250280CA[7], NC_000007.13:g.44250280CA[8], NC_000007.13:g.44250280CA[9], NC_000007.13:g.44250280CA[11], NC_000007.13:g.44250280CA[12]

Select item 14912303042.

rs1491230304 has merged into rs71563939 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 7:44210734 (GRCh38)
7:44250333 (GRCh37)
Canonical SPDI:: NC_000007.14:44210722:TATATATATATAT:TATATATATAT,NC_000007.14:44210722:TATATATATATAT:TATATATATATATAT,NC_000007.14:44210722:TATATATATATAT:TATATATATATATATAT
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
TA=0.045128/226 (1000Genomes)
TA=0.048333/29 (NorthernSweden)
TA=0.05/2 (GENOME_DK)
TA=0.06929/1161 (TOMMO)
TA=0.071875/322 (Estonian)
HGVS:: NC_000007.14:g.44210724AT[5], NC_000007.14:g.44210724AT[7], NC_000007.14:g.44210724AT[8], NC_000007.13:g.44250323AT[5], NC_000007.13:g.44250323AT[7], NC_000007.13:g.44250323AT[8]

Select item 14911604603.

rs1491160460 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:44210680 (GRCh38)
7:44250279 (GRCh37)
Canonical SPDI:: NC_000007.14:44210679:GC:
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000022/2 (GnomAD)
HGVS:: NC_000007.14:g.44210680_44210681del, NC_000007.13:g.44250279_44250280del

Select item 14908360134.

rs1490836013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:44212924 (GRCh38)
7:44252523 (GRCh37)
Canonical SPDI:: NC_000007.14:44212923:A:C
Gene:: YKT6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44212924A>C, NC_000007.13:g.44252523A>C, NM_006555.4:c.*642A>C, NM_006555.3:c.*642A>C, NM_001363678.2:c.*642A>C, NM_001363678.1:c.*642A>C, NM_001410874.1:c.*714A>C

Select item 14905558305.

rs1490555830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44199211 (GRCh38)
7:44238810 (GRCh37)
Canonical SPDI:: NC_000007.14:44199210:T:C
Gene:: YKT6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.44199211T>C, NC_000007.13:g.44238810T>C, NG_008847.2:g.3960A>G

Select item 14904671736.

rs1490467173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44204218 (GRCh38)
7:44243817 (GRCh37)
Canonical SPDI:: NC_000007.14:44204217:G:A
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.44204218G>A, NC_000007.13:g.44243817G>A

Select item 14900203917.

rs1490020391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44213372 (GRCh38)
7:44252971 (GRCh37)
Canonical SPDI:: NC_000007.14:44213371:T:C
Gene:: YKT6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000007.14:g.44213372T>C, NC_000007.13:g.44252971T>C, NM_006555.4:c.*1090T>C, NM_006555.3:c.*1090T>C, NM_001363678.2:c.*1090T>C, NM_001363678.1:c.*1090T>C, NM_001410874.1:c.*1162T>C

Select item 14898685748.

rs1489868574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44214791 (GRCh38)
7:44254390 (GRCh37)
Canonical SPDI:: NC_000007.14:44214790:C:T
Gene:: YKT6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.44214791C>T, NC_000007.13:g.44254390C>T

Select item 14897292109.

rs1489729210 has merged into rs1005943373 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 7:44205936 (GRCh38)
7:44245535 (GRCh37)
Canonical SPDI:: NC_000007.14:44205933:TTTT:TT,NC_000007.14:44205933:TTTT:TTT
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.44205936_44205937del, NC_000007.14:g.44205937del, NC_000007.13:g.44245535_44245536del, NC_000007.13:g.44245536del

Select item 148963949710.

rs1489639497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44211251 (GRCh38)
7:44250850 (GRCh37)
Canonical SPDI:: NC_000007.14:44211250:T:C
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.44211251T>C, NC_000007.13:g.44250850T>C

Select item 148946110311.

rs1489461103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44199388 (GRCh38)
7:44238987 (GRCh37)
Canonical SPDI:: NC_000007.14:44199387:G:A
Gene:: YKT6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44199388G>A, NC_000007.13:g.44238987G>A, NG_008847.2:g.3783C>T

Select item 148937088812.

rs1489370888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44200775 (GRCh38)
7:44240374 (GRCh37)
Canonical SPDI:: NC_000007.14:44200774:T:C
Gene:: YKT6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.0346/101 (KOREAN)
HGVS:: NC_000007.14:g.44200775T>C, NC_000007.13:g.44240374T>C, NG_008847.2:g.2396A>G

Select item 148922825013.

rs1489228250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAA [Show Flanks]
Chromosome:: 7:44202163 (GRCh38)
7:44241763 (GRCh37)
Canonical SPDI:: NC_000007.14:44202163:A:ATGAA
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATGAA=0./0 (ALFA)
ATGA=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44202164_44202165insTGAA, NC_000007.13:g.44241763_44241764insTGAA, NG_008847.2:g.1007_1008insTCAT

Select item 148893309314.

rs1488933093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44211560 (GRCh38)
7:44251159 (GRCh37)
Canonical SPDI:: NC_000007.14:44211559:T:C
Gene:: YKT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44211560T>C, NC_000007.13:g.44251159T>C, NM_001410874.1:c.568T>C, XM_047419785.1:c.568T>C, XP_047275741.1:p.Phe190Leu

Select item 148883625215.

rs1488836252 has merged into rs778839608 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:44207720 (GRCh38)
7:44247319 (GRCh37)
Canonical SPDI:: NC_000007.14:44207719:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:44207719:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:44207719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00027/5 (ALFA)
-=0.01167/7 (NorthernSweden)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000007.14:g.44207730del, NC_000007.14:g.44207730dup, NC_000007.14:g.44207730_44207731insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.44247329del, NC_000007.13:g.44247329dup, NC_000007.13:g.44247329_44247330insTTTTTTTTTTTTTTTTTTTTTTT

Select item 148876270816.

rs1488762708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44203170 (GRCh38)
7:44242769 (GRCh37)
Canonical SPDI:: NC_000007.14:44203169:T:C
Gene:: YKT6 (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_000007.14:g.44203170T>C, NC_000007.13:g.44242769T>C, NG_008847.2:g.1A>G

Select item 148865757317.

rs1488657573 has merged into rs1241930102 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 7:44210425 (GRCh38)
7:44250024 (GRCh37)
Canonical SPDI:: NC_000007.14:44210417:TGTGTGTGTGT:TGTGTGT,NC_000007.14:44210417:TGTGTGTGTGT:TGTGTGTGT
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.44210419GT[3], NC_000007.14:g.44210419GT[4], NC_000007.13:g.44250018GT[3], NC_000007.13:g.44250018GT[4]

Select item 148849012018.

rs1488490120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:44203493 (GRCh38)
7:44243092 (GRCh37)
Canonical SPDI:: NC_000007.14:44203492:T:G
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.44203493T>G, NC_000007.13:g.44243092T>G

Select item 148848815719.

rs1488488157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:44202043 (GRCh38)
7:44241642 (GRCh37)
Canonical SPDI:: NC_000007.14:44202042:G:A,NC_000007.14:44202042:G:C
Gene:: YKT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44202043G>A, NC_000007.14:g.44202043G>C, NC_000007.13:g.44241642G>A, NC_000007.13:g.44241642G>C, NG_008847.2:g.1128C>T, NG_008847.2:g.1128C>G

Select item 148828314220.

rs1488283142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44212537 (GRCh38)
7:44252136 (GRCh37)
Canonical SPDI:: NC_000007.14:44212536:G:A
Gene:: YKT6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.44212537G>A, NC_000007.13:g.44252136G>A, NM_006555.4:c.*255G>A, NM_006555.3:c.*255G>A, NM_001363678.2:c.*255G>A, NM_001363678.1:c.*255G>A, NM_001410874.1:c.*327G>A

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