SNP Links for Nucleotide (Select 226493356) - SNP

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Select item 14915859271.

rs1491585927 has merged into rs11324197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:13914074 (GRCh38)
18:13914073 (GRCh37)
Canonical SPDI:: NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:13914060:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.11105/428 (ALSPAC)
-=0.11192/415 (TWINSUK)
T=0.25972/314 (1000Genomes)
HGVS:: NC_000018.10:g.13914074_13914075del, NC_000018.10:g.13914075del, NC_000018.10:g.13914075dup, NC_000018.10:g.13914074_13914075dup, NC_000018.10:g.13914073_13914075dup, NC_000018.10:g.13914072_13914075dup, NC_000018.10:g.13914064_13914075dup, NC_000018.9:g.13914073_13914074del, NC_000018.9:g.13914074del, NC_000018.9:g.13914074dup, NC_000018.9:g.13914073_13914074dup, NC_000018.9:g.13914072_13914074dup, NC_000018.9:g.13914071_13914074dup, NC_000018.9:g.13914063_13914074dup, NG_011819.1:g.6475_6476del, NG_011819.1:g.6476del, NG_011819.1:g.6476dup, NG_011819.1:g.6475_6476dup, NG_011819.1:g.6474_6476dup, NG_011819.1:g.6473_6476dup, NG_011819.1:g.6465_6476dup

Select item 14915109352.

rs1491510935 has merged into rs71174201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 18:13904229 (GRCh38)
18:13904228 (GRCh37)
Canonical SPDI:: NC_000018.10:13904218:AAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:13904218:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:13904218:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:13904218:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:13904218:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
-=0.2149/797 (TWINSUK)
-=0.2213/131 (NorthernSweden)
-=0.2289/882 (ALSPAC)
A=0.4325/2166 (1000Genomes)
HGVS:: NC_000018.10:g.13904229_13904230del, NC_000018.10:g.13904230del, NC_000018.10:g.13904230dup, NC_000018.10:g.13904229_13904230dup, NC_000018.10:g.13904228_13904230dup, NC_000018.9:g.13904228_13904229del, NC_000018.9:g.13904229del, NC_000018.9:g.13904229dup, NC_000018.9:g.13904228_13904229dup, NC_000018.9:g.13904227_13904229dup, NG_011819.1:g.16317_16318del, NG_011819.1:g.16318del, NG_011819.1:g.16318dup, NG_011819.1:g.16317_16318dup, NG_011819.1:g.16316_16318dup

Select item 14915105853.

rs1491510585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 18:13882836 (GRCh38)
18:13882836 (GRCh37)
Canonical SPDI:: NC_000018.10:13882836:TATATATAT:TATATATATAT
Gene:: MC2R (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.000007/1 (GnomAD)
TA=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.13882838AT[5], NC_000018.9:g.13882837AT[5], NG_011819.1:g.37693TA[5], NM_000529.2:c.*1781TA[5], NM_001291911.1:c.*1781TA[5], XM_017025781.2:c.*1781TA[5], XM_017025781.1:c.*1781TA[5], XM_047437537.1:c.*1781TA[5]

Select item 14914590304.

rs1491459030 [Homo sapiens]

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

Select item 14914585695.

rs1491458569 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:13908744 (GRCh38)
18:13908743 (GRCh37)
Canonical SPDI:: NC_000018.10:13908742:TAT:T
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0239/92 (ALSPAC)
-=0.0367/136 (TWINSUK)
HGVS:: NC_000018.10:g.13908744_13908745del, NC_000018.9:g.13908743_13908744del, NG_011819.1:g.11793_11794del

Select item 14914324726.

rs1491432472 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:13904380 (GRCh38)
18:13904379 (GRCh37)
Canonical SPDI:: NC_000018.10:13904379:CA:
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00512/19 (TWINSUK)
-=0.00571/22 (ALSPAC)
HGVS:: NC_000018.10:g.13904380_13904381del, NC_000018.9:g.13904379_13904380del, NG_011819.1:g.16156_16157del

Select item 14914028447.

rs1491402844 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:13904219 (GRCh38)
18:13904219 (GRCh37)
Canonical SPDI:: NC_000018.10:13904219::C
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.13904219_13904220insC, NC_000018.9:g.13904218_13904219insC, NG_011819.1:g.16317_16318insG

Select item 14911803628.

rs1491180362 has merged into rs57512236 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:13908726 (GRCh38)
18:13908725 (GRCh37)
Canonical SPDI:: NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:13908706:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.2741/500 (Korea1K)
-=0.3718/1433 (ALSPAC)
-=0.3803/1410 (TWINSUK)
HGVS:: NC_000018.10:g.13908708GT[9], NC_000018.10:g.13908708GT[10], NC_000018.10:g.13908708GT[11], NC_000018.10:g.13908708GT[12], NC_000018.10:g.13908708GT[14], NC_000018.10:g.13908708GT[15], NC_000018.10:g.13908708GT[16], NC_000018.10:g.13908708GT[17], NC_000018.10:g.13908708GT[19], NC_000018.10:g.13908708GT[20], NC_000018.10:g.13908708GT[21], NC_000018.10:g.13908708GT[22], NC_000018.10:g.13908708GT[23], NC_000018.10:g.13908708GT[24], NC_000018.10:g.13908708GT[25], NC_000018.10:g.13908708GT[27], NC_000018.9:g.13908707GT[9], NC_000018.9:g.13908707GT[10], NC_000018.9:g.13908707GT[11], NC_000018.9:g.13908707GT[12], NC_000018.9:g.13908707GT[14], NC_000018.9:g.13908707GT[15], NC_000018.9:g.13908707GT[16], NC_000018.9:g.13908707GT[17], NC_000018.9:g.13908707GT[19], NC_000018.9:g.13908707GT[20], NC_000018.9:g.13908707GT[21], NC_000018.9:g.13908707GT[22], NC_000018.9:g.13908707GT[23], NC_000018.9:g.13908707GT[24], NC_000018.9:g.13908707GT[25], NC_000018.9:g.13908707GT[27], NG_011819.1:g.11795CA[9], NG_011819.1:g.11795CA[10], NG_011819.1:g.11795CA[11], NG_011819.1:g.11795CA[12], NG_011819.1:g.11795CA[14], NG_011819.1:g.11795CA[15], NG_011819.1:g.11795CA[16], NG_011819.1:g.11795CA[17], NG_011819.1:g.11795CA[19], NG_011819.1:g.11795CA[20], NG_011819.1:g.11795CA[21], NG_011819.1:g.11795CA[22], NG_011819.1:g.11795CA[23], NG_011819.1:g.11795CA[24], NG_011819.1:g.11795CA[25], NG_011819.1:g.11795CA[27]

Select item 14911491139.

rs1491149113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 18:13894165 (GRCh38)
18:13894165 (GRCh37)
Canonical SPDI:: NC_000018.10:13894165:AT:ATAT
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000018.10:g.13894166_13894167dup, NC_000018.9:g.13894165_13894166dup, NG_011819.1:g.26370_26371dup

Select item 149114421910.

rs1491144219 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:13905948 (GRCh38)
18:13905947 (GRCh37)
Canonical SPDI:: NC_000018.10:13905947:CA:
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.13905948_13905949del, NC_000018.9:g.13905947_13905948del, NG_011819.1:g.14588_14589del

Select item 149096936711.

rs1490969367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:13887159 (GRCh38)
18:13887158 (GRCh37)
Canonical SPDI:: NC_000018.10:13887158:G:A
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000251/4 (TOMMO)
HGVS:: NC_000018.10:g.13887159G>A, NC_000018.9:g.13887158G>A, NG_011819.1:g.33378C>T

Select item 149075645712.

rs1490756457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:13911990 (GRCh38)
18:13911989 (GRCh37)
Canonical SPDI:: NC_000018.10:13911989:T:A
Gene:: MC2R (Varview)
Functional Consequence:: 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_000018.10:g.13911990T>A, NC_000018.9:g.13911989T>A, NG_011819.1:g.8547A>T

Select item 149069010813.

rs1490690108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 18:13913088 (GRCh38)
18:13913087 (GRCh37)
Canonical SPDI:: NC_000018.10:13913087:T:A,NC_000018.10:13913087:T:C
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.13913088T>A, NC_000018.10:g.13913088T>C, NC_000018.9:g.13913087T>A, NC_000018.9:g.13913087T>C, NG_011819.1:g.7449A>T, NG_011819.1:g.7449A>G

Select item 149057525014.

rs1490575250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:13900286 (GRCh38)
18:13900285 (GRCh37)
Canonical SPDI:: NC_000018.10:13900285:A:G
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.13900286A>G, NC_000018.9:g.13900285A>G, NG_011819.1:g.20251T>C

Select item 149056155815.

rs1490561558 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACTCTCTCTCTCTCTC>- [Show Flanks]
Chromosome:: 18:13883621 (GRCh38)
18:13883620 (GRCh37)
Canonical SPDI:: NC_000018.10:13883619:CACACACACTCTCTCTCTCTCTC:C
Gene:: MC2R (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.00042/5 (ALFA)
-=0.00117/82 (GnomAD)
HGVS:: NC_000018.10:g.13883621_13883642del, NC_000018.9:g.13883620_13883641del, NG_011819.1:g.36896_36917del, NM_000529.2:c.*984_*1005del, NM_001291911.1:c.*984_*1005del, XM_017025781.2:c.*984_*1005del, XM_017025781.1:c.*984_*1005del, XM_047437537.1:c.*984_*1005del

Select item 149047087116.

rs1490470871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:13918852 (GRCh38)
18:13918851 (GRCh37)
Canonical SPDI:: NC_000018.10:13918851:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.13918852G>A, NC_000018.9:g.13918851G>A, NG_011819.1:g.1685C>T

Select item 149043818917.

rs1490438189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:13905096 (GRCh38)
18:13905095 (GRCh37)
Canonical SPDI:: NC_000018.10:13905095:A:G
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.13905096A>G, NC_000018.9:g.13905095A>G, NG_011819.1:g.15441T>C

Select item 149036239918.

rs1490362399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:13903370 (GRCh38)
18:13903369 (GRCh37)
Canonical SPDI:: NC_000018.10:13903369:A:G
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.13903370A>G, NC_000018.9:g.13903369A>G, NG_011819.1:g.17167T>C

Select item 149035911219.

rs1490359112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:13890104 (GRCh38)
18:13890103 (GRCh37)
Canonical SPDI:: NC_000018.10:13890103:G:A,NC_000018.10:13890103:G:C
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.13890104G>A, NC_000018.10:g.13890104G>C, NC_000018.9:g.13890103G>A, NC_000018.9:g.13890103G>C, NG_011819.1:g.30433C>T, NG_011819.1:g.30433C>G

Select item 149024430420.

rs1490244304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:13910416 (GRCh38)
18:13910415 (GRCh37)
Canonical SPDI:: NC_000018.10:13910415:T:G
Gene:: MC2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.13910416T>G, NC_000018.9:g.13910415T>G, NG_011819.1:g.10121A>C

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