SNP Links for Gene (Select 79693) - SNP

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Items: 1 to 20 of 2100

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Select item 14913470131.

rs1491347013 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:37807098 (GRCh38)
1:38272771 (GRCh37)
Canonical SPDI:: NC_000001.11:37807098:A:AA
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: upstream_transcript_variant,splice_donor_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37807099dup, NC_000001.10:g.38272771dup

Select item 14909999372.

rs1490999937 [Homo sapiens]

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

Select item 14909912183.

rs1490991218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37805472 (GRCh38)
1:38271144 (GRCh37)
Canonical SPDI:: NC_000001.11:37805471:G:A
Gene:: YRDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.37805472G>A, NC_000001.10:g.38271144G>A

Select item 14901463884.

rs1490146388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37809016 (GRCh38)
1:38274688 (GRCh37)
Canonical SPDI:: NC_000001.11:37809015:T:C
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37809016T>C, NC_000001.10:g.38274688T>C, NM_198446.3:c.276T>C, NM_198446.2:c.276T>C, NM_001142726.2:c.87T>C, NM_001142726.1:c.87T>C

Select item 14899761905.

rs1489976190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37804213 (GRCh38)
1:38269885 (GRCh37)
Canonical SPDI:: NC_000001.11:37804212:G:A
Gene:: YRDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.37804213G>A, NC_000001.10:g.38269885G>A

Select item 14896646216.

rs1489664621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:37810104 (GRCh38)
1:38275776 (GRCh37)
Canonical SPDI:: NC_000001.11:37810103:C:A,NC_000001.11:37810103:C:G,NC_000001.11:37810103:C:T
Gene:: MTF1 (Varview), YRDC (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (Korea1K)
T=0.00004/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.37810104C>A, NC_000001.11:g.37810104C>G, NC_000001.11:g.37810104C>T, NC_000001.10:g.38275776C>A, NC_000001.10:g.38275776C>G, NC_000001.10:g.38275776C>T, XM_011541491.3:c.*5032G>T, XM_011541491.3:c.*5032G>C, XM_011541491.3:c.*5032G>A, XM_011541491.2:c.*5032G>T, XM_011541491.2:c.*5032G>C, XM_011541491.2:c.*5032G>A, XM_011541491.1:c.*5032G>T, XM_011541491.1:c.*5032G>C, XM_011541491.1:c.*5032G>A, NM_005955.3:c.*5032G>T, NM_005955.3:c.*5032G>C, NM_005955.3:c.*5032G>A, NM_005955.2:c.*5032G>T, NM_005955.2:c.*5032G>C, NM_005955.2:c.*5032G>A, XM_047421170.1:c.*5032G>T, XM_047421170.1:c.*5032G>C, XM_047421170.1:c.*5032G>A, XM_047421173.1:c.*5032G>T, XM_047421173.1:c.*5032G>C, XM_047421173.1:c.*5032G>A

Select item 14895405047.

rs1489540504 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAA>- [Show Flanks]
Chromosome:: 1:37803122 (GRCh38)
1:38268794 (GRCh37)
Canonical SPDI:: NC_000001.11:37803116:AATAAATAA:AATAA
Gene:: YRDC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.37803118ATAA[1], NC_000001.10:g.38268790ATAA[1], NM_024640.4:c.*801TATT[1], NM_024640.3:c.*801TATT[1]

Select item 14892854838.

rs1489285483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37809968 (GRCh38)
1:38275640 (GRCh37)
Canonical SPDI:: NC_000001.11:37809967:A:G
Gene:: MTF1 (Varview), YRDC (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.37809968A>G, NC_000001.10:g.38275640A>G, XM_011541491.3:c.*5168T>C, XM_011541491.2:c.*5168T>C, XM_011541491.1:c.*5168T>C, NM_005955.3:c.*5168T>C, NM_005955.2:c.*5168T>C, XM_047421170.1:c.*5168T>C, XM_047421173.1:c.*5168T>C

Select item 14889718799.

rs1488971879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:37808757 (GRCh38)
1:38274429 (GRCh37)
Canonical SPDI:: NC_000001.11:37808756:T:A
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.37808757T>A, NC_000001.10:g.38274429T>A

Select item 148871484210.

rs1488714842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:37802661 (GRCh38)
1:38268333 (GRCh37)
Canonical SPDI:: NC_000001.11:37802660:T:G
Gene:: YRDC (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.37802661T>G, NC_000001.10:g.38268333T>G

Select item 148856253811.

rs1488562538 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:37809494 (GRCh38)
1:38275166 (GRCh37)
Canonical SPDI:: NC_000001.11:37809493:TG:
Gene:: MTF1 (Varview), YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.37809494_37809495del, NC_000001.10:g.38275166_38275167del

Select item 148855948712.

rs1488559487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:37809193 (GRCh38)
1:38274865 (GRCh37)
Canonical SPDI:: NC_000001.11:37809192:A:C
Gene:: MTF1 (Varview), YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37809193A>C, NC_000001.10:g.38274865A>C, NM_198446.3:c.*120A>C, NM_198446.2:c.*120A>C, NM_001142726.2:c.*120A>C, NM_001142726.1:c.*120A>C

Select item 148819217513.

rs1488192175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37802590 (GRCh38)
1:38268262 (GRCh37)
Canonical SPDI:: NC_000001.11:37802589:A:G
Gene:: YRDC (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.37802590A>G, NC_000001.10:g.38268262A>G

Select item 148793931314.

rs1487939313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37807928 (GRCh38)
1:38273600 (GRCh37)
Canonical SPDI:: NC_000001.11:37807927:C:T
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.37807928C>T, NC_000001.10:g.38273600C>T, NM_024640.4:c.253G>A, NM_024640.3:c.253G>A, NM_198446.3:c.-477C>T, NM_198446.2:c.-477C>T, NM_001142726.2:c.-533C>T, NM_001142726.1:c.-533C>T, NP_078916.3:p.Val85Ile

Select item 148764405815.

rs1487644058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37802924 (GRCh38)
1:38268596 (GRCh37)
Canonical SPDI:: NC_000001.11:37802923:A:G
Gene:: YRDC (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.37802924A>G, NC_000001.10:g.38268596A>G

Select item 148717314516.

rs1487173145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:37808852 (GRCh38)
1:38274524 (GRCh37)
Canonical SPDI:: NC_000001.11:37808851:C:G
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37808852C>G, NC_000001.10:g.38274524C>G

Select item 148565273617.

rs1485652736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:37807589 (GRCh38)
1:38273261 (GRCh37)
Canonical SPDI:: NC_000001.11:37807588:T:G
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37807589T>G, NC_000001.10:g.38273261T>G

Select item 148552793418.

rs1485527934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:37807786 (GRCh38)
1:38273458 (GRCh37)
Canonical SPDI:: NC_000001.11:37807785:C:G
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.37807786C>G, NC_000001.10:g.38273458C>G

Select item 148473134719.

rs1484731347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37803239 (GRCh38)
1:38268911 (GRCh37)
Canonical SPDI:: NC_000001.11:37803238:C:T
Gene:: YRDC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.37803239C>T, NC_000001.10:g.38268911C>T, NM_024640.4:c.*686G>A, NM_024640.3:c.*686G>A

Select item 148458560420.

rs1484585604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:37806421 (GRCh38)
1:38272093 (GRCh37)
Canonical SPDI:: NC_000001.11:37806420:C:A
Gene:: YRDC (Varview), C1orf122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37806421C>A, NC_000001.10:g.38272093C>A

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