SNP Links for Gene (Select 5609) - SNP

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Select item 14915452531.

rs1491545253 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:7910844 (GRCh38)
19:7975729 (GRCh37)
Canonical SPDI:: NC_000019.10:7910841:AGAG:AG
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7910842AG[1], NC_000019.9:g.7975727AG[1], NG_029438.2:g.11963AG[1]

Select item 14913691692.

rs1491369169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:7911235 (GRCh38)
19:7976121 (GRCh37)
Canonical SPDI:: NC_000019.10:7911235:T:TT
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7911236dup, NC_000019.9:g.7976121dup, NG_029438.2:g.12357dup

Select item 14912702583.

rs1491270258 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGCGGTG [Show Flanks]
Chromosome:: 19:7910842 (GRCh38)
19:7975728 (GRCh37)
Canonical SPDI:: NC_000019.10:7910842:G:GTGGCGGTG
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GTGGCGGT=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7910843_7910844insTGGCGGTG, NC_000019.9:g.7975728_7975729insTGGCGGTG, NG_029438.2:g.11964_11965insTGGCGGTG

Select item 14912238094.

rs1491223809 has merged into rs548806971 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
Chromosome:: 19:7911242 (GRCh38)
19:7976127 (GRCh37)
Canonical SPDI:: NC_000019.10:7911236:CCCCCCCC:CCCCC,NC_000019.10:7911236:CCCCCCCC:CCCCCC,NC_000019.10:7911236:CCCCCCCC:CCCCCCC,NC_000019.10:7911236:CCCCCCCC:CCCCCCCCC,NC_000019.10:7911236:CCCCCCCC:CCCCCCCCCC
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
C=0.00419/21 (1000Genomes)
HGVS:: NC_000019.10:g.7911242_7911244del, NC_000019.10:g.7911243_7911244del, NC_000019.10:g.7911244del, NC_000019.10:g.7911244dup, NC_000019.10:g.7911243_7911244dup, NC_000019.9:g.7976127_7976129del, NC_000019.9:g.7976128_7976129del, NC_000019.9:g.7976129del, NC_000019.9:g.7976129dup, NC_000019.9:g.7976128_7976129dup, NG_029438.2:g.12363_12365del, NG_029438.2:g.12364_12365del, NG_029438.2:g.12365del, NG_029438.2:g.12365dup, NG_029438.2:g.12364_12365dup

Select item 14911966225.

rs1491196622 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:7911177 (GRCh38)
19:7976062 (GRCh37)
Canonical SPDI:: NC_000019.10:7911176:AG:
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000223/2 (ALFA)
-=0.000092/10 (ExAC)
HGVS:: NC_000019.10:g.7911177_7911178del, NC_000019.9:g.7976062_7976063del, NG_029438.2:g.12298_12299del

Select item 14907545686.

rs1490754568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:7906201 (GRCh38)
19:7971086 (GRCh37)
Canonical SPDI:: NC_000019.10:7906200:G:C,NC_000019.10:7906200:G:T
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7906201G>C, NC_000019.10:g.7906201G>T, NC_000019.9:g.7971086G>C, NC_000019.9:g.7971086G>T, NG_029438.2:g.7322G>C, NG_029438.2:g.7322G>T, NM_145329.1:c.*385G>C, NM_145329.1:c.*385G>T

Select item 14907432847.

rs1490743284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:7904418 (GRCh38)
19:7969303 (GRCh37)
Canonical SPDI:: NC_000019.10:7904417:G:C
Gene:: MAP2K7 (Varview), LOC124904630 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.7904418G>C, NC_000019.9:g.7969303G>C, NG_029438.2:g.5539G>C

Select item 14906514318.

rs1490651431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7907286 (GRCh38)
19:7972171 (GRCh37)
Canonical SPDI:: NC_000019.10:7907285:G:A
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000019.10:g.7907286G>A, NC_000019.9:g.7972171G>A, NG_029438.2:g.8407G>A

Select item 14906120609.

rs1490612060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7912516 (GRCh38)
19:7977401 (GRCh37)
Canonical SPDI:: NC_000019.10:7912515:G:A
Gene:: MAP2K7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.7912516G>A, NC_000019.9:g.7977401G>A, NG_029438.2:g.13637G>A, NM_145185.4:c.*85G>A, NM_145185.3:c.*85G>A, NM_145185.2:c.*85G>A, NM_001297555.2:c.*85G>A, NM_001297555.1:c.*85G>A, NM_001297556.2:c.*85G>A, NM_001297556.1:c.*85G>A, XM_006722800.3:c.*85G>A, XM_006722800.2:c.*85G>A, XM_006722800.1:c.*85G>A, NM_005043.2:c.*85G>A, NM_005043.1:c.*85G>A

Select item 149021077110.

rs1490210771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7912256 (GRCh38)
19:7977141 (GRCh37)
Canonical SPDI:: NC_000019.10:7912255:A:G
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7912256A>G, NC_000019.9:g.7977141A>G, NG_029438.2:g.13377A>G

Select item 149020464911.

rs1490204649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7911210 (GRCh38)
19:7976095 (GRCh37)
Canonical SPDI:: NC_000019.10:7911209:C:T
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7911210C>T, NC_000019.9:g.7976095C>T, NG_029438.2:g.12331C>T

Select item 149015134812.

rs1490151348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:7902973 (GRCh38)
19:7967858 (GRCh37)
Canonical SPDI:: NC_000019.10:7902972:G:T
Gene:: MAP2K7 (Varview), LOC124904630 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000019.10:g.7902973G>T, NC_000019.9:g.7967858G>T, NG_029438.2:g.4094G>T, NG_050684.1:g.19469G>T

Select item 148972721513.

rs1489727215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7911022 (GRCh38)
19:7975907 (GRCh37)
Canonical SPDI:: NC_000019.10:7911021:A:G
Gene:: MAP2K7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.7911022A>G, NC_000019.9:g.7975907A>G, NG_029438.2:g.12143A>G, NM_145185.4:c.718A>G, NM_145185.3:c.718A>G, NM_145185.2:c.718A>G, NM_001297555.2:c.766A>G, NM_001297555.1:c.766A>G, NM_001297556.2:c.718A>G, NM_001297556.1:c.718A>G, XM_006722800.3:c.766A>G, XM_006722800.2:c.766A>G, XM_006722800.1:c.766A>G, NM_005043.2:c.847A>G, NM_005043.1:c.718A>G, NP_660186.1:p.Ile240Val, NP_001284484.1:p.Ile256Val, NP_001284485.1:p.Ile240Val, XP_006722863.1:p.Ile256Val

Select item 148972378114.

rs1489723781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7914220 (GRCh38)
19:7979105 (GRCh37)
Canonical SPDI:: NC_000019.10:7914219:A:G
Gene:: MAP2K7 (Varview), TGFBR3L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7914220A>G, NC_000019.9:g.7979105A>G, NG_029438.2:g.15341A>G, NM_145185.4:c.*1789A>G, NM_145185.3:c.*1789A>G, NM_145185.2:c.*1789A>G, NM_001297555.2:c.*1789A>G, NM_001297555.1:c.*1789A>G, NM_001297556.2:c.*1789A>G, NM_001297556.1:c.*1789A>G, XM_006722800.3:c.*1789A>G, XM_006722800.2:c.*1789A>G

Select item 148970381215.

rs1489703812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:7907497 (GRCh38)
19:7972382 (GRCh37)
Canonical SPDI:: NC_000019.10:7907496:T:C
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7907497T>C, NC_000019.9:g.7972382T>C, NG_029438.2:g.8618T>C

Select item 148960210816.

rs1489602108 has merged into rs879174307 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:7908174 (GRCh38)
19:7973059 (GRCh37)
Canonical SPDI:: NC_000019.10:7908164:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:7908164:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:7908164:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:7908164:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:7908164:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:7908164:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: MAP2K7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7908174_7908179del, NC_000019.10:g.7908178_7908179del, NC_000019.10:g.7908179del, NC_000019.10:g.7908179dup, NC_000019.10:g.7908178_7908179dup, NC_000019.10:g.7908177_7908179dup, NC_000019.9:g.7973059_7973064del, NC_000019.9:g.7973063_7973064del, NC_000019.9:g.7973064del, NC_000019.9:g.7973064dup, NC_000019.9:g.7973063_7973064dup, NC_000019.9:g.7973062_7973064dup, NG_029438.2:g.9295_9300del, NG_029438.2:g.9299_9300del, NG_029438.2:g.9300del, NG_029438.2:g.9300dup, NG_029438.2:g.9299_9300dup, NG_029438.2:g.9298_9300dup

Select item 148949085617.

rs1489490856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:7914731 (GRCh38)
19:7979616 (GRCh37)
Canonical SPDI:: NC_000019.10:7914730:C:A
Gene:: MAP2K7 (Varview), TGFBR3L (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.7914731C>A, NC_000019.9:g.7979616C>A, NG_029438.2:g.15852C>A

Select item 148943356518.

rs1489433565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7905253 (GRCh38)
19:7970138 (GRCh37)
Canonical SPDI:: NC_000019.10:7905252:G:A
Gene:: MAP2K7 (Varview), LOC124904630 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000019.10:g.7905253G>A, NC_000019.9:g.7970138G>A, NG_029438.2:g.6374G>A

Select item 148927750919.

rs1489277509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7903368 (GRCh38)
19:7968253 (GRCh37)
Canonical SPDI:: NC_000019.10:7903367:G:A
Gene:: MAP2K7 (Varview), LOC124904630 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7903368G>A, NC_000019.9:g.7968253G>A, NG_029438.2:g.4489G>A, NG_050684.1:g.19864G>A

Select item 148926855720.

rs1489268557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:7904989 (GRCh38)
19:7969874 (GRCh37)
Canonical SPDI:: NC_000019.10:7904988:C:G,NC_000019.10:7904988:C:T
Gene:: MAP2K7 (Varview), LOC124904630 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.7904989C>G, NC_000019.10:g.7904989C>T, NC_000019.9:g.7969874C>G, NC_000019.9:g.7969874C>T, NG_029438.2:g.6110C>G, NG_029438.2:g.6110C>T