SNP Links for Gene (Select 374654) - SNP

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Select item 14915802911.

rs1491580291 has merged into rs770804978 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 15:89628682 (GRCh38)
15:90171913 (GRCh37)
Canonical SPDI:: NC_000015.10:89628678:CCCCC:CCC,NC_000015.10:89628678:CCCCC:CCCC,NC_000015.10:89628678:CCCCC:CCCCCC
Gene:: KIF7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
C=0.000009/1 (ExAC)
HGVS:: NC_000015.10:g.89628682_89628683del, NC_000015.10:g.89628683del, NC_000015.10:g.89628683dup, NC_000015.9:g.90171913_90171914del, NC_000015.9:g.90171914del, NC_000015.9:g.90171914dup, NG_030338.1:g.31772_31773del, NG_030338.1:g.31773del, NG_030338.1:g.31773dup, NM_198525.3:c.3771_3772del, NM_198525.3:c.3772del, NM_198525.3:c.3772dup, NM_198525.2:c.3771_3772del, NM_198525.2:c.3772del, NM_198525.2:c.3772dup, XM_011521531.3:c.3894_3895del, XM_011521531.3:c.3895del, XM_011521531.3:c.3895dup, XM_011521531.2:c.3894_3895del, XM_011521531.2:c.3895del, XM_011521531.2:c.3895dup, XM_011521531.1:c.3894_3895del, XM_011521531.1:c.3895del, XM_011521531.1:c.3895dup, XM_047432481.1:c.3768_3769del, XM_047432481.1:c.3769del, XM_047432481.1:c.3769dup, XM_047432477.1:c.3888_3889del, XM_047432477.1:c.3889del, XM_047432477.1:c.3889dup, XM_047432479.1:c.3768_3769del, XM_047432479.1:c.3769del, XM_047432479.1:c.3769dup, XM_047432478.1:c.3768_3769del, XM_047432478.1:c.3769del, XM_047432478.1:c.3769dup, XM_047432480.1:c.3765_3766del, XM_047432480.1:c.3766del, XM_047432480.1:c.3766dup, NP_940927.2:p.Ala1258fs, NP_940927.2:p.Ala1258fs, NP_940927.2:p.Ala1258fs, XP_011519833.1:p.Ala1299fs, XP_011519833.1:p.Ala1299fs, XP_011519833.1:p.Ala1299fs, XP_047288437.1:p.Ala1257fs, XP_047288437.1:p.Ala1257fs, XP_047288437.1:p.Ala1257fs, XP_047288433.1:p.Ala1297fs, XP_047288433.1:p.Ala1297fs, XP_047288433.1:p.Ala1297fs, XP_047288435.1:p.Ala1257fs, XP_047288435.1:p.Ala1257fs, XP_047288435.1:p.Ala1257fs, XP_047288434.1:p.Ala1257fs, XP_047288434.1:p.Ala1257fs, XP_047288434.1:p.Ala1257fs, XP_047288436.1:p.Ala1256fs, XP_047288436.1:p.Ala1256fs, XP_047288436.1:p.Ala1256fs

Select item 14914310672.

rs1491431067 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TATACA,TATACACA,TATATACA,TATATACACA,TATATATACA,TATATATATACA,TATATATATATACA,TATATATATATATACA,TATATATATATATATACA,TATATATATATATATATACA,TATATATATATATATATATACA [Show Flanks]
Chromosome:: 15:89664338 (GRCh38)
15:90207570 (GRCh37)
Canonical SPDI:: NC_000015.10:89664338:A:ATACA,NC_000015.10:89664338:A:ATATACA,NC_000015.10:89664338:A:ATATACACA,NC_000015.10:89664338:A:ATATATACA,NC_000015.10:89664338:A:ATATATACACA,NC_000015.10:89664338:A:ATATATATACA,NC_000015.10:89664338:A:ATATATATATACA,NC_000015.10:89664338:A:ATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATATATATACA
Gene:: PLIN1 (Varview), KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATACA=0./0 (ALFA)
ATATATATATATATATATAC=0.000004/1 (TOPMED)
ATATATATATAC=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.89664339_89664340insTACA, NC_000015.10:g.89664339AT[2]ACA[1], NC_000015.10:g.89664339AT[2]AC[2]A[1], NC_000015.10:g.89664339AT[3]ACA[1], NC_000015.10:g.89664339AT[3]AC[2]A[1], NC_000015.10:g.89664339AT[4]ACA[1], NC_000015.10:g.89664339AT[5]ACA[1], NC_000015.10:g.89664339AT[6]ACA[1], NC_000015.10:g.89664339AT[7]ACA[1], NC_000015.10:g.89664339AT[8]ACA[1], NC_000015.10:g.89664339AT[9]ACA[1], NC_000015.10:g.89664339AT[10]ACA[1], NC_000015.9:g.90207570_90207571insTACA, NC_000015.9:g.90207570AT[2]ACA[1], NC_000015.9:g.90207570AT[2]AC[2]A[1], NC_000015.9:g.90207570AT[3]ACA[1], NC_000015.9:g.90207570AT[3]AC[2]A[1], NC_000015.9:g.90207570AT[4]ACA[1], NC_000015.9:g.90207570AT[5]ACA[1], NC_000015.9:g.90207570AT[6]ACA[1], NC_000015.9:g.90207570AT[7]ACA[1], NC_000015.9:g.90207570AT[8]ACA[1], NC_000015.9:g.90207570AT[9]ACA[1], NC_000015.9:g.90207570AT[10]ACA[1], NG_029172.1:g.20079_20080insGTAT, NG_029172.1:g.20079_20080insGTATAT, NG_029172.1:g.20079TG[2]TA[2]T[1], NG_029172.1:g.20079_20080insGTATATAT, NG_029172.1:g.20079TG[2]TA[3]T[1], NG_029172.1:g.20079_20080insGTATATATAT, NG_029172.1:g.20079_20080insGTATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATATATATAT

Select item 14913673723.

rs1491367372 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:89663649 (GRCh38)
15:90206881 (GRCh37)
Canonical SPDI:: NC_000015.10:89663649::C
Gene:: KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00043/26 (GnomAD)
C=0.00108/18 (TOMMO)
HGVS:: NC_000015.10:g.89663649_89663650insC, NC_000015.9:g.90206880_90206881insC, NG_029172.1:g.20768_20769insG

Select item 14912254754.

rs1491225475 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:89663650 (GRCh38)
15:90206881 (GRCh37)
Canonical SPDI:: NC_000015.10:89663648:GTG:G
Gene:: KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00003/2 (GnomAD)
HGVS:: NC_000015.10:g.89663650_89663651del, NC_000015.9:g.90206881_90206882del, NG_029172.1:g.20768_20769del

Select item 14910769475.

rs1491076947 has merged into rs71151519 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 15:89657336 (GRCh38)
15:90200567 (GRCh37)
Canonical SPDI:: NC_000015.10:89657328:AGAGAGAGAGA:AGAGAGA,NC_000015.10:89657328:AGAGAGAGAGA:AGAGAGAGA,NC_000015.10:89657328:AGAGAGAGAGA:AGAGAGAGAGAGA,NC_000015.10:89657328:AGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: KIF7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
AG=0.33/198 (NorthernSweden)
HGVS:: NC_000015.10:g.89657330GA[3], NC_000015.10:g.89657330GA[4], NC_000015.10:g.89657330GA[6], NC_000015.10:g.89657330GA[7], NC_000015.9:g.90200561GA[3], NC_000015.9:g.90200561GA[4], NC_000015.9:g.90200561GA[6], NC_000015.9:g.90200561GA[7], NG_030338.1:g.3114CT[3], NG_030338.1:g.3114CT[4], NG_030338.1:g.3114CT[6], NG_030338.1:g.3114CT[7]

Select item 14910622256.

rs1491062225 [Homo sapiens]

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

Select item 14909696507.

rs1490969650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:89652355 (GRCh38)
15:90195586 (GRCh37)
Canonical SPDI:: NC_000015.10:89652354:C:G
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.89652355C>G, NC_000015.9:g.90195586C>G, NG_030338.1:g.8097G>C

Select item 14909152628.

rs1490915262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:89633646 (GRCh38)
15:90176877 (GRCh37)
Canonical SPDI:: NC_000015.10:89633645:T:C
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89633646T>C, NC_000015.9:g.90176877T>C, NG_030338.1:g.26806A>G

Select item 14907568979.

rs1490756897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89659746 (GRCh38)
15:90202977 (GRCh37)
Canonical SPDI:: NC_000015.10:89659745:G:A
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.89659746G>A, NC_000015.9:g.90202977G>A, NG_030338.1:g.706C>T

Select item 149073080510.

rs1490730805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89658782 (GRCh38)
15:90202013 (GRCh37)
Canonical SPDI:: NC_000015.10:89658781:C:T
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.89658782C>T, NC_000015.9:g.90202013C>T, NG_030338.1:g.1670G>A

Select item 149072842111.

rs1490728421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89663658 (GRCh38)
15:90206889 (GRCh37)
Canonical SPDI:: NC_000015.10:89663657:C:T
Gene:: KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0199/236 (ALFA)
T=0.00006/3 (GnomAD)
T=0.00011/3 (TOMMO)
T=0.02261/63 (KOREAN)
HGVS:: NC_000015.10:g.89663658C>T, NC_000015.9:g.90206889C>T, NG_029172.1:g.20760G>A

Select item 149066411012.

rs1490664110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89627834 (GRCh38)
15:90171065 (GRCh37)
Canonical SPDI:: NC_000015.10:89627833:C:T
Gene:: TICRR (Varview), KIF7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89627834C>T, NC_000015.9:g.90171065C>T, NG_030338.1:g.32618G>A, NM_152259.4:c.*748C>T, NM_152259.3:c.*748C>T, NM_001308025.1:c.*748C>T

Select item 149053116013.

rs1490531160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:89646537 (GRCh38)
15:90189768 (GRCh37)
Canonical SPDI:: NC_000015.10:89646536:G:A,NC_000015.10:89646536:G:C
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89646537G>A, NC_000015.10:g.89646537G>C, NC_000015.9:g.90189768G>A, NC_000015.9:g.90189768G>C, NG_030338.1:g.13915C>T, NG_030338.1:g.13915C>G

Select item 149052908714.

rs1490529087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:89651721 (GRCh38)
15:90194952 (GRCh37)
Canonical SPDI:: NC_000015.10:89651720:T:A
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.89651721T>A, NC_000015.9:g.90194952T>A, NG_030338.1:g.8731A>T

Select item 149042769915.

rs1490427699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89633394 (GRCh38)
15:90176625 (GRCh37)
Canonical SPDI:: NC_000015.10:89633393:C:T
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89633394C>T, NC_000015.9:g.90176625C>T, NG_030338.1:g.27058G>A

Select item 149040881416.

rs1490408814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:89631577 (GRCh38)
15:90174808 (GRCh37)
Canonical SPDI:: NC_000015.10:89631576:A:T
Gene:: KIF7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.89631577A>T, NC_000015.9:g.90174808A>T, NG_030338.1:g.28875T>A, NM_198525.3:c.3029T>A, NM_198525.2:c.3029T>A, XM_011521531.3:c.3152T>A, XM_011521531.2:c.3152T>A, XM_011521531.1:c.3152T>A, XM_047432481.1:c.3026T>A, XM_047432477.1:c.3146T>A, XM_047432479.1:c.3026T>A, XM_047432478.1:c.3026T>A, XM_047432480.1:c.3023T>A, NP_940927.2:p.Leu1010Gln, XP_011519833.1:p.Leu1051Gln, XP_047288437.1:p.Leu1009Gln, XP_047288433.1:p.Leu1049Gln, XP_047288435.1:p.Leu1009Gln, XP_047288434.1:p.Leu1009Gln, XP_047288436.1:p.Leu1008Gln

Select item 149029537217.

rs1490295372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89659265 (GRCh38)
15:90202496 (GRCh37)
Canonical SPDI:: NC_000015.10:89659264:A:G
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.89659265A>G, NC_000015.9:g.90202496A>G, NG_030338.1:g.1187T>C

Select item 149020463818.

rs1490204638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89644641 (GRCh38)
15:90187872 (GRCh37)
Canonical SPDI:: NC_000015.10:89644640:C:T
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000685/2 (KOREAN)
HGVS:: NC_000015.10:g.89644641C>T, NC_000015.9:g.90187872C>T, NG_030338.1:g.15811G>A

Select item 149017542319.

rs1490175423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89628141 (GRCh38)
15:90171372 (GRCh37)
Canonical SPDI:: NC_000015.10:89628140:G:A
Gene:: TICRR (Varview), KIF7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.89628141G>A, NC_000015.9:g.90171372G>A, NG_030338.1:g.32311C>T, NM_198525.3:c.*278C>T, NM_198525.2:c.*278C>T, XM_011521531.3:c.*278C>T, XM_011521531.2:c.*278C>T, XM_011521531.1:c.*278C>T, XM_047432477.1:c.*278C>T, XM_047432479.1:c.*278C>T, XM_047432478.1:c.*278C>T, XM_047432480.1:c.*278C>T

Select item 149013732320.

rs1490137323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:89638890 (GRCh38)
15:90182121 (GRCh37)
Canonical SPDI:: NC_000015.10:89638889:A:C
Gene:: KIF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.89638890A>C, NC_000015.9:g.90182121A>C, NG_030338.1:g.21562T>G

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