SNP Links for Gene (Select 2330) - SNP

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Select item 14915885891.

rs1491588589 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:147188522 (GRCh38)
1:146660101 (GRCh37)
Canonical SPDI:: NC_000001.11:147188521:CA:
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.147188522_147188523del, NW_003871055.3:g.4003935_4003936del, NG_052905.1:g.20329_20330del, NC_000001.10:g.146660101_146660102del

Select item 14915382142.

rs1491538214 has merged into rs10552833 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:147188533 (GRCh38)
1:146660112 (GRCh37)
Canonical SPDI:: NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147188522:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4343/2175 (1000Genomes)
HGVS:: NC_000001.11:g.147188533_147188544del, NC_000001.11:g.147188535_147188544del, NC_000001.11:g.147188537_147188544del, NC_000001.11:g.147188540_147188544del, NC_000001.11:g.147188541_147188544del, NC_000001.11:g.147188542_147188544del, NC_000001.11:g.147188543_147188544del, NC_000001.11:g.147188544del, NC_000001.11:g.147188544dup, NC_000001.11:g.147188543_147188544dup, NC_000001.11:g.147188542_147188544dup, NC_000001.11:g.147188541_147188544dup, NC_000001.11:g.147188540_147188544dup, NC_000001.11:g.147188539_147188544dup, NC_000001.11:g.147188538_147188544dup, NC_000001.11:g.147188537_147188544dup, NC_000001.11:g.147188544_147188545insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003871055.3:g.4003946_4003957del, NW_003871055.3:g.4003948_4003957del, NW_003871055.3:g.4003950_4003957del, NW_003871055.3:g.4003953_4003957del, NW_003871055.3:g.4003954_4003957del, NW_003871055.3:g.4003955_4003957del, NW_003871055.3:g.4003956_4003957del, NW_003871055.3:g.4003957del, NW_003871055.3:g.4003957dup, NW_003871055.3:g.4003956_4003957dup, NW_003871055.3:g.4003955_4003957dup, NW_003871055.3:g.4003954_4003957dup, NW_003871055.3:g.4003953_4003957dup, NW_003871055.3:g.4003952_4003957dup, NW_003871055.3:g.4003951_4003957dup, NW_003871055.3:g.4003950_4003957dup, NW_003871055.3:g.4003957_4003958insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052905.1:g.20340_20351del, NG_052905.1:g.20342_20351del, NG_052905.1:g.20344_20351del, NG_052905.1:g.20347_20351del, NG_052905.1:g.20348_20351del, NG_052905.1:g.20349_20351del, NG_052905.1:g.20350_20351del, NG_052905.1:g.20351del, NG_052905.1:g.20351dup, NG_052905.1:g.20350_20351dup, NG_052905.1:g.20349_20351dup, NG_052905.1:g.20348_20351dup, NG_052905.1:g.20347_20351dup, NG_052905.1:g.20346_20351dup, NG_052905.1:g.20345_20351dup, NG_052905.1:g.20344_20351dup, NG_052905.1:g.20351_20352insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.146660113_146660124del, NC_000001.10:g.146660115_146660124del, NC_000001.10:g.146660117_146660124del, NC_000001.10:g.146660120_146660124del, NC_000001.10:g.146660121_146660124del, NC_000001.10:g.146660122_146660124del, NC_000001.10:g.146660123_146660124del, NC_000001.10:g.146660124del, NC_000001.10:g.146660124dup, NC_000001.10:g.146660123_146660124dup, NC_000001.10:g.146660122_146660124dup, NC_000001.10:g.146660121_146660124dup, NC_000001.10:g.146660120_146660124dup, NC_000001.10:g.146660119_146660124dup, NC_000001.10:g.146660118_146660124dup, NC_000001.10:g.146660117_146660124dup, NC_000001.10:g.146660124_146660125insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915141773.

rs1491514177 has merged into rs11336263 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:147185176 (GRCh38)
1:146656755 (GRCh37)
Canonical SPDI:: NC_000001.11:147185175:TTTTTTTTT:TTTTTTTT,NC_000001.11:147185175:TTTTTTTTT:TTTTTTTTTT
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.145664/1868 (ALFA)
-=0.222445/222 (GoNL)
-=0.246764/915 (TWINSUK)
-=0.247794/955 (ALSPAC)
-=0.25/458 (Korea1K)
-=0.28516/75479 (TOPMED)
-=0.288333/173 (NorthernSweden)
-=0.296205/1327 (Estonian)
-=0.303514/1520 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000001.11:g.147185184del, NC_000001.11:g.147185184dup, NW_003871055.3:g.4000597del, NW_003871055.3:g.4000597dup, NG_052905.1:g.16991del, NG_052905.1:g.16991dup, NC_000001.10:g.146656763del, NC_000001.10:g.146656763dup

Select item 14914859384.

rs1491485938 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:147212918 (GRCh38)
1:146684486 (GRCh37)
Canonical SPDI:: NC_000001.11:147212917:TA:
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.147212918_147212919del, NW_003871055.3:g.4028331_4028332del, NG_052905.1:g.44725_44726del, NC_000001.10:g.146684486_146684487del

Select item 14912786685.

rs1491278668 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:147185175 (GRCh38)
1:146656754 (GRCh37)
Canonical SPDI:: NC_000001.11:147185174:AT:
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.147185175_147185176del, NW_003871055.3:g.4000588_4000589del, NG_052905.1:g.16982_16983del, NC_000001.10:g.146656754_146656755del

Select item 14909283476.

rs1490928347 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:147219839 (GRCh38)
1:146691413 (GRCh37)
Canonical SPDI:: NC_000001.11:147219839:C:CC
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.147219840dup, NW_003871055.3:g.4035253dup, NG_052905.1:g.51647dup, NC_000001.10:g.146691413dup

Select item 14909272997.

rs1490927299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:147194894 (GRCh38)
1:146666473 (GRCh37)
Canonical SPDI:: NC_000001.11:147194893:C:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.147194894C>G, NW_003871055.3:g.4010307C>G, NG_052905.1:g.26701C>G, NC_000001.10:g.146666473C>G

Select item 14909017598.

rs1490901759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:147204010 (GRCh38)
1:146675591 (GRCh37)
Canonical SPDI:: NC_000001.11:147204009:A:G,NC_000001.11:147204009:A:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147204010A>G, NC_000001.11:g.147204010A>T, NW_003871055.3:g.4019423A>G, NW_003871055.3:g.4019423A>T, NG_016732.3:g.1075T>C, NG_016732.3:g.1075T>A, NG_052905.1:g.35817A>G, NG_052905.1:g.35817A>T, NC_000001.10:g.146675591A>G, NC_000001.10:g.146675591A>T, XM_006711244.5:c.*831T>C, XM_006711244.5:c.*831T>A, XM_006711244.4:c.*831T>C, XM_006711244.4:c.*831T>A, XM_006711244.3:c.*831T>C, XM_006711244.3:c.*831T>A, XM_047416285.1:c.*831T>C, XM_047416285.1:c.*831T>A, XM_047416278.1:c.*831T>C, XM_047416278.1:c.*831T>A, XM_047416274.1:c.*831T>C, XM_047416274.1:c.*831T>A, XM_047416292.1:c.*831T>C, XM_047416292.1:c.*831T>A

Select item 14908998419.

rs1490899841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147195921 (GRCh38)
1:146667500 (GRCh37)
Canonical SPDI:: NC_000001.11:147195920:G:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000121/32 (TOPMED)
HGVS:: NC_000001.11:g.147195921G>A, NW_003871055.3:g.4011334G>A, NG_052905.1:g.27728G>A, NC_000001.10:g.146667500G>A

Select item 149087403810.

rs1490874038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147202994 (GRCh38)
1:146674574 (GRCh37)
Canonical SPDI:: NC_000001.11:147202993:C:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.147202994C>T, NW_003871055.3:g.4018407C>T, NG_052905.1:g.34801C>T, NC_000001.10:g.146674574C>T

Select item 149069561211.

rs1490695612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:147211905 (GRCh38)
1:146683473 (GRCh37)
Canonical SPDI:: NC_000001.11:147211904:T:C
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147211905T>C, NW_003871055.3:g.4027318T>C, NG_052905.1:g.43712T>C, NC_000001.10:g.146683473T>C

Select item 149064446912.

rs1490644469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147210628 (GRCh38)
1:146682196 (GRCh37)
Canonical SPDI:: NC_000001.11:147210627:G:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.147210628G>A, NW_003871055.3:g.4026041G>A, NG_052905.1:g.42435G>A, NC_000001.10:g.146682196G>A

Select item 149043848713.

rs1490438487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:147219392 (GRCh38)
1:146690964 (GRCh37)
Canonical SPDI:: NC_000001.11:147219391:C:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.147219392C>A, NW_003871055.3:g.4034805C>A, NG_052905.1:g.51199C>A, NC_000001.10:g.146690964C>A

Select item 149041140214.

rs1490411402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147196422 (GRCh38)
1:146668001 (GRCh37)
Canonical SPDI:: NC_000001.11:147196421:A:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.147196422A>G, NW_003871055.3:g.4011835A>G, NG_052905.1:g.28229A>G, NC_000001.10:g.146668001A>G

Select item 149041074815.

rs1490410748 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:147203520 (GRCh38)
1:146675101 (GRCh37)
Canonical SPDI:: NC_000001.11:147203518:AAA:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.147203520_147203521del, NW_003871055.3:g.4018933_4018934del, NG_016732.3:g.1565_1566del, NG_052905.1:g.35327_35328del, NC_000001.10:g.146675101_146675102del, XM_006711244.5:c.*1321_*1322del, XM_006711244.4:c.*1321_*1322del, XM_006711244.3:c.*1321_*1322del, XM_047416285.1:c.*1321_*1322del, XM_047416278.1:c.*1321_*1322del, XM_047416274.1:c.*1321_*1322del, XM_047416292.1:c.*1321_*1322del

Select item 149038728716.

rs1490387287 has merged into rs1200367107 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:147218403 (GRCh38)
1:146689974 (GRCh37)
Canonical SPDI:: NC_000001.11:147218402:TTTTTTTT:TTTTTTT,NC_000001.11:147218402:TTTTTTTT:TTTTTTTTT
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.147218410del, NC_000001.11:g.147218410dup, NW_003871055.3:g.4033823del, NW_003871055.3:g.4033823dup, NG_052905.1:g.50217del, NG_052905.1:g.50217dup, NC_000001.10:g.146689981del, NC_000001.10:g.146689981dup

Select item 149023002117.

rs1490230021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147188685 (GRCh38)
1:146660265 (GRCh37)
Canonical SPDI:: NC_000001.11:147188684:A:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.147188685A>G, NW_003871055.3:g.4004098A>G, NG_052905.1:g.20492A>G, NC_000001.10:g.146660265A>G

Select item 149021902418.

rs1490219024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:147227565 (GRCh38)
1:146699164 (GRCh37)
Canonical SPDI:: NC_000001.11:147227564:A:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.147227565A>T, NW_003871055.3:g.4042978A>T, NG_052905.1:g.59372A>T, NC_000001.10:g.146699164A>T

Select item 149020289519.

rs1490202895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:147227675 (GRCh38)
1:146699274 (GRCh37)
Canonical SPDI:: NC_000001.11:147227674:T:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.147227675T>G, NW_003871055.3:g.4043088T>G, NG_052905.1:g.59482T>G, NC_000001.10:g.146699274T>G

Select item 149015435920.

rs1490154359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:147190753 (GRCh38)
1:146662332 (GRCh37)
Canonical SPDI:: NC_000001.11:147190752:T:C
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.147190753T>C, NW_003871055.3:g.4006166T>C, NG_052905.1:g.22560T>C, NC_000001.10:g.146662332T>C

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