SNP Links for Gene (Select 343930) - SNP

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Select item 14913307161.

rs1491330716 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:17817943 (GRCh38)
2:17999210 (GRCh37)
Canonical SPDI:: NC_000002.12:17817941:AGA:A
Gene:: MSGN1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.17817943_17817944del, NC_000002.11:g.17999210_17999211del

Select item 14912874862.

rs1491287486 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:17817942 (GRCh38)
2:17999210 (GRCh37)
Canonical SPDI:: NC_000002.12:17817942:G:GG
Gene:: MSGN1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00955/619 (GnomAD)
HGVS:: NC_000002.12:g.17817943dup, NC_000002.11:g.17999210dup

Select item 14911288453.

rs1491128845 has merged into rs34933108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:17817953 (GRCh38)
2:17999220 (GRCh37)
Canonical SPDI:: NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17817943:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MSGN1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.17817953_17817961del, NC_000002.12:g.17817956_17817961del, NC_000002.12:g.17817958_17817961del, NC_000002.12:g.17817959_17817961del, NC_000002.12:g.17817960_17817961del, NC_000002.12:g.17817961del, NC_000002.12:g.17817961dup, NC_000002.12:g.17817960_17817961dup, NC_000002.12:g.17817959_17817961dup, NC_000002.12:g.17817958_17817961dup, NC_000002.12:g.17817956_17817961dup, NC_000002.12:g.17817955_17817961dup, NC_000002.11:g.17999220_17999228del, NC_000002.11:g.17999223_17999228del, NC_000002.11:g.17999225_17999228del, NC_000002.11:g.17999226_17999228del, NC_000002.11:g.17999227_17999228del, NC_000002.11:g.17999228del, NC_000002.11:g.17999228dup, NC_000002.11:g.17999227_17999228dup, NC_000002.11:g.17999226_17999228dup, NC_000002.11:g.17999225_17999228dup, NC_000002.11:g.17999223_17999228dup, NC_000002.11:g.17999222_17999228dup

Select item 14909633374.

rs1490963337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:17814791 (GRCh38)
2:17996058 (GRCh37)
Canonical SPDI:: NC_000002.12:17814790:G:A
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.00006/16 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000684/2 (KOREAN)
A=0.001638/3 (Korea1K)
HGVS:: NC_000002.12:g.17814791G>A, NC_000002.11:g.17996058G>A

Select item 14891828675.

rs1489182867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:17816814 (GRCh38)
2:17998081 (GRCh37)
Canonical SPDI:: NC_000002.12:17816813:C:T
Gene:: MSGN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.17816814C>T, NC_000002.11:g.17998081C>T, NM_001105569.3:c.296C>T, NM_001105569.2:c.296C>T, NM_001105569.1:c.296C>T, NP_001099039.1:p.Ala99Val

Select item 14891306646.

rs1489130664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:17817038 (GRCh38)
2:17998305 (GRCh37)
Canonical SPDI:: NC_000002.12:17817037:T:A,NC_000002.12:17817037:T:C
Gene:: MSGN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.17817038T>A, NC_000002.12:g.17817038T>C, NC_000002.11:g.17998305T>A, NC_000002.11:g.17998305T>C, NM_001105569.3:c.520T>A, NM_001105569.3:c.520T>C, NM_001105569.2:c.520T>A, NM_001105569.2:c.520T>C, NM_001105569.1:c.520T>A, NM_001105569.1:c.520T>C, NP_001099039.1:p.Tyr174Asn, NP_001099039.1:p.Tyr174His

Select item 14887929387.

rs1488792938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:17815458 (GRCh38)
2:17996725 (GRCh37)
Canonical SPDI:: NC_000002.12:17815457:T:A
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.17815458T>A, NC_000002.11:g.17996725T>A

Select item 14879296008.

rs1487929600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:17814805 (GRCh38)
2:17996072 (GRCh37)
Canonical SPDI:: NC_000002.12:17814804:A:G,NC_000002.12:17814804:A:T
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.17814805A>G, NC_000002.12:g.17814805A>T, NC_000002.11:g.17996072A>G, NC_000002.11:g.17996072A>T

Select item 14875226819.

rs1487522681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:17816738 (GRCh38)
2:17998005 (GRCh37)
Canonical SPDI:: NC_000002.12:17816737:G:A
Gene:: MSGN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.17816738G>A, NC_000002.11:g.17998005G>A, NM_001105569.3:c.220G>A, NM_001105569.2:c.220G>A, NM_001105569.1:c.220G>A, NP_001099039.1:p.Ala74Thr

Select item 148740361510.

rs1487403615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:17818236 (GRCh38)
2:17999503 (GRCh37)
Canonical SPDI:: NC_000002.12:17818235:G:A
Gene:: MSGN1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000002.12:g.17818236G>A, NC_000002.11:g.17999503G>A

Select item 148661526311.

rs1486615263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:17818268 (GRCh38)
2:17999535 (GRCh37)
Canonical SPDI:: NC_000002.12:17818267:G:T
Gene:: MSGN1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.17818268G>T, NC_000002.11:g.17999535G>T

Select item 148631659012.

rs1486316590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:17816163 (GRCh38)
2:17997430 (GRCh37)
Canonical SPDI:: NC_000002.12:17816162:G:A
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.17816163G>A, NC_000002.11:g.17997430G>A

Select item 148596025213.

rs1485960252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:17817180 (GRCh38)
2:17998447 (GRCh37)
Canonical SPDI:: NC_000002.12:17817179:A:G
Gene:: MSGN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.17817180A>G, NC_000002.11:g.17998447A>G, NM_001105569.3:c.*80A>G, NM_001105569.2:c.*80A>G

Select item 148588437214.

rs1485884372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:17817037 (GRCh38)
2:17998304 (GRCh37)
Canonical SPDI:: NC_000002.12:17817036:G:A
Gene:: MSGN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.17817037G>A, NC_000002.11:g.17998304G>A, NM_001105569.3:c.519G>A, NM_001105569.2:c.519G>A, NM_001105569.1:c.519G>A

Select item 148425651215.

rs1484256512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:17816735 (GRCh38)
2:17998002 (GRCh37)
Canonical SPDI:: NC_000002.12:17816734:G:C
Gene:: MSGN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.17816735G>C, NC_000002.11:g.17998002G>C, NM_001105569.3:c.217G>C, NM_001105569.2:c.217G>C, NM_001105569.1:c.217G>C, NP_001099039.1:p.Gly73Arg

Select item 148320162216.

rs1483201622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:17814835 (GRCh38)
2:17996102 (GRCh37)
Canonical SPDI:: NC_000002.12:17814834:T:A
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.17814835T>A, NC_000002.11:g.17996102T>A

Select item 148314592417.

rs1483145924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:17816660 (GRCh38)
2:17997927 (GRCh37)
Canonical SPDI:: NC_000002.12:17816659:T:C
Gene:: MSGN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.17816660T>C, NC_000002.11:g.17997927T>C, NM_001105569.3:c.142T>C, NM_001105569.2:c.142T>C, NM_001105569.1:c.142T>C, NP_001099039.1:p.Ser48Pro

Select item 148225301218.

rs1482253012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:17814765 (GRCh38)
2:17996032 (GRCh37)
Canonical SPDI:: NC_000002.12:17814764:T:C
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.17814765T>C, NC_000002.11:g.17996032T>C

Select item 148148128319.

rs1481481283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:17817809 (GRCh38)
2:17999076 (GRCh37)
Canonical SPDI:: NC_000002.12:17817808:G:A,NC_000002.12:17817808:G:T
Gene:: MSGN1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/3 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.17817809G>A, NC_000002.12:g.17817809G>T, NC_000002.11:g.17999076G>A, NC_000002.11:g.17999076G>T

Select item 147732284620.

rs1477322846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:17816026 (GRCh38)
2:17997293 (GRCh37)
Canonical SPDI:: NC_000002.12:17816025:T:C
Gene:: MSGN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.17816026T>C, NC_000002.11:g.17997293T>C

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