SNP Links for Gene (Select 102723566) - SNP

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Select item 14914645531.

rs1491464553 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:127818941 (GRCh38)
9:130581221 (GRCh37)
Canonical SPDI:: NC_000009.12:127818941::C
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000009.12:g.127818941_127818942insC, NC_000009.11:g.130581220_130581221insC, NG_009551.1:g.40827_40828insG

Select item 14912293032.

rs1491229303 has merged into rs373626892 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 9:127818951 (GRCh38)
9:130581230 (GRCh37)
Canonical SPDI:: NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:127818940:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
T=0.008333/5 (NorthernSweden)
T=0.15/6 (GENOME_DK)
HGVS:: NC_000009.12:g.127818951_127818955del, NC_000009.12:g.127818952_127818955del, NC_000009.12:g.127818953_127818955del, NC_000009.12:g.127818954_127818955del, NC_000009.12:g.127818955del, NC_000009.12:g.127818955dup, NC_000009.12:g.127818954_127818955dup, NC_000009.12:g.127818953_127818955dup, NC_000009.11:g.130581230_130581234del, NC_000009.11:g.130581231_130581234del, NC_000009.11:g.130581232_130581234del, NC_000009.11:g.130581233_130581234del, NC_000009.11:g.130581234del, NC_000009.11:g.130581234dup, NC_000009.11:g.130581233_130581234dup, NC_000009.11:g.130581232_130581234dup, NG_009551.1:g.40824_40828del, NG_009551.1:g.40825_40828del, NG_009551.1:g.40826_40828del, NG_009551.1:g.40827_40828del, NG_009551.1:g.40828del, NG_009551.1:g.40828dup, NG_009551.1:g.40827_40828dup, NG_009551.1:g.40826_40828dup

Select item 14908712833.

rs1490871283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127819680 (GRCh38)
9:130581959 (GRCh37)
Canonical SPDI:: NC_000009.12:127819679:G:A
Gene:: ENG (Varview), LOC102723566 (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_000009.12:g.127819680G>A, NC_000009.11:g.130581959G>A, NG_009551.1:g.40089C>T

Select item 14907097814.

rs1490709781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:127816246 (GRCh38)
9:130578525 (GRCh37)
Canonical SPDI:: NC_000009.12:127816245:A:C
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.127816246A>C, NC_000009.11:g.130578525A>C, NG_009551.1:g.43523T>G, NG_023245.1:g.18372A>C, NR_136302.1:n.181A>C

Select item 14906926105.

rs1490692610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:127817257 (GRCh38)
9:130579536 (GRCh37)
Canonical SPDI:: NC_000009.12:127817256:T:C
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.127817257T>C, NC_000009.11:g.130579536T>C, NG_009551.1:g.42512A>G, NR_136302.1:n.1192T>C

Select item 14902340886.

rs1490234088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127821768 (GRCh38)
9:130584047 (GRCh37)
Canonical SPDI:: NC_000009.12:127821767:A:G
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127821768A>G, NC_000009.11:g.130584047A>G, NG_009551.1:g.38001T>C

Select item 14897407437.

rs1489740743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127815703 (GRCh38)
9:130577982 (GRCh37)
Canonical SPDI:: NC_000009.12:127815702:G:A
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000009.12:g.127815703G>A, NC_000009.11:g.130577982G>A, NG_009551.1:g.44066C>T, NM_000118.4:c.*214C>T, NM_000118.3:c.*214C>T, NM_001114753.3:c.1956C>T, NM_001114753.2:c.1956C>T, NM_001278138.2:c.1410C>T, NM_001278138.1:c.1410C>T, NG_023245.1:g.17829G>A

Select item 14887465808.

rs1488746580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:127819336 (GRCh38)
9:130581615 (GRCh37)
Canonical SPDI:: NC_000009.12:127819335:C:A,NC_000009.12:127819335:C:G,NC_000009.12:127819335:C:T
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.127819336C>A, NC_000009.12:g.127819336C>G, NC_000009.12:g.127819336C>T, NC_000009.11:g.130581615C>A, NC_000009.11:g.130581615C>G, NC_000009.11:g.130581615C>T, NG_009551.1:g.40433G>T, NG_009551.1:g.40433G>C, NG_009551.1:g.40433G>A

Select item 14883327589.

rs1488332758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127814344 (GRCh38)
9:130576623 (GRCh37)
Canonical SPDI:: NC_000009.12:127814343:C:T
Gene:: FPGS (Varview), LOC102723566 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.127814344C>T, NC_000009.11:g.130576623C>T, NG_009551.1:g.45425G>A, NG_023245.1:g.16470C>T, XM_005251864.5:c.*117C>T, XM_005251864.4:c.*117C>T, XM_005251864.3:c.*117C>T, XM_005251864.2:c.*117C>T, XM_005251864.1:c.*117C>T, XM_047423127.1:c.*117C>T

Select item 148819112310.

rs1488191123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127820868 (GRCh38)
9:130583147 (GRCh37)
Canonical SPDI:: NC_000009.12:127820867:C:T
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127820868C>T, NC_000009.11:g.130583147C>T, NG_009551.1:g.38901G>A

Select item 148802877011.

rs1488028770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:127816718 (GRCh38)
9:130578997 (GRCh37)
Canonical SPDI:: NC_000009.12:127816717:T:G
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.127816718T>G, NC_000009.11:g.130578997T>G, NG_009551.1:g.43051A>C, NR_136302.1:n.653T>G

Select item 148759488912.

rs1487594889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:127815763 (GRCh38)
9:130578042 (GRCh37)
Canonical SPDI:: NC_000009.12:127815762:C:G,NC_000009.12:127815762:C:T
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.00002/3 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.127815763C>G, NC_000009.12:g.127815763C>T, NC_000009.11:g.130578042C>G, NC_000009.11:g.130578042C>T, NG_009551.1:g.44006G>C, NG_009551.1:g.44006G>A, NM_000118.4:c.*154G>C, NM_000118.4:c.*154G>A, NM_000118.3:c.*154G>C, NM_000118.3:c.*154G>A, NM_001114753.3:c.1896G>C, NM_001114753.3:c.1896G>A, NM_001114753.2:c.1896G>C, NM_001114753.2:c.1896G>A, NM_001278138.2:c.1350G>C, NM_001278138.2:c.1350G>A, NM_001278138.1:c.1350G>C, NM_001278138.1:c.1350G>A, NG_023245.1:g.17889C>G, NG_023245.1:g.17889C>T

Select item 148741259413.

rs1487412594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:127818125 (GRCh38)
9:130580404 (GRCh37)
Canonical SPDI:: NC_000009.12:127818124:C:G
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127818125C>G, NC_000009.11:g.130580404C>G, NG_009551.1:g.41644G>C, NM_000118.4:c.1681G>C, NM_000118.3:c.1681G>C, NM_001114753.3:c.1681G>C, NM_001114753.2:c.1681G>C, NM_001278138.2:c.1135G>C, NM_001278138.1:c.1135G>C, NP_000109.1:p.Asp561His, NP_001108225.1:p.Asp561His, NP_001265067.1:p.Asp379His

Select item 148732387714.

rs1487323877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:127821215 (GRCh38)
9:130583494 (GRCh37)
Canonical SPDI:: NC_000009.12:127821214:G:T
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127821215G>T, NC_000009.11:g.130583494G>T, NG_009551.1:g.38554C>A, NR_136302.1:n.1589G>T

Select item 148727059815.

rs1487270598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:127822093 (GRCh38)
9:130584372 (GRCh37)
Canonical SPDI:: NC_000009.12:127822092:T:G
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127822093T>G, NC_000009.11:g.130584372T>G, NG_009551.1:g.37676A>C

Select item 148710659316.

rs1487106593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127821370 (GRCh38)
9:130583649 (GRCh37)
Canonical SPDI:: NC_000009.12:127821369:G:A
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000009.12:g.127821370G>A, NC_000009.11:g.130583649G>A, NG_009551.1:g.38399C>T, NR_136302.1:n.1744G>A

Select item 148667533117.

rs1486675331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:127819237 (GRCh38)
9:130581516 (GRCh37)
Canonical SPDI:: NC_000009.12:127819236:C:G
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127819237C>G, NC_000009.11:g.130581516C>G, NG_009551.1:g.40532G>C

Select item 148638354918.

rs1486383549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127820349 (GRCh38)
9:130582628 (GRCh37)
Canonical SPDI:: NC_000009.12:127820348:A:G
Gene:: ENG (Varview), LOC102723566 (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_000009.12:g.127820349A>G, NC_000009.11:g.130582628A>G, NG_009551.1:g.39420T>C

Select item 148617124619.

rs1486171246 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCA>- [Show Flanks]
Chromosome:: 9:127816539 (GRCh38)
9:130578818 (GRCh37)
Canonical SPDI:: NC_000009.12:127816536:CAAGCA:CA
Gene:: ENG (Varview), LOC102723566 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.127816539_127816542del, NC_000009.11:g.130578818_130578821del, NG_009551.1:g.43229_43232del, NR_136302.1:n.474_477del

Select item 148577307620.

rs1485773076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:127820667 (GRCh38)
9:130582946 (GRCh37)
Canonical SPDI:: NC_000009.12:127820666:A:C
Gene:: ENG (Varview), LOC102723566 (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_000009.12:g.127820667A>C, NC_000009.11:g.130582946A>C, NG_009551.1:g.39102T>G

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