SNP Links for Nucleotide (Select 1034602091) - SNP

Links from Nucleotide

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Select item 14911805041.

rs1491180504 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:12768909 (GRCh38)
17:12672226 (GRCh37)
Canonical SPDI:: NC_000017.11:12768908:AT:
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000551/9 (ALFA)
-=0.048845/6737 (GnomAD)
-=0.094978/174 (Korea1K)
-=0.10942/1833 (TOMMO)
HGVS:: NC_000017.11:g.12768909_12768910del, NC_000017.10:g.12672226_12672227del, NG_012972.1:g.108020_108021del, NM_153604.4:c.*5265_*5266del, NM_153604.3:c.*5265_*5266del, NM_001146312.3:c.*5265_*5266del, NM_001146312.2:c.*5265_*5266del, NM_001378306.1:c.*5265_*5266del, XM_017025342.1:c.*5265_*5266del, XM_005256863.1:c.*5265_*5266del

Select item 14911550572.

rs1491155057 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:12768390 (GRCh38)
17:12671708 (GRCh37)
Canonical SPDI:: NC_000017.11:12768390::C
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.12768390_12768391insC, NC_000017.10:g.12671707_12671708insC, NG_012972.1:g.107501_107502insC, NM_153604.4:c.*4746_*4747insC, NM_153604.3:c.*4746_*4747insC, NM_001146312.3:c.*4746_*4747insC, NM_001146312.2:c.*4746_*4747insC, NM_001378306.1:c.*4746_*4747insC, XM_017025342.1:c.*4746_*4747insC, XM_005256863.1:c.*4746_*4747insC

Select item 14908796153.

rs1490879615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12768375 (GRCh38)
17:12671692 (GRCh37)
Canonical SPDI:: NC_000017.11:12768374:A:G
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000017.11:g.12768375A>G, NC_000017.10:g.12671692A>G, NG_012972.1:g.107486A>G, NM_153604.4:c.*4731A>G, NM_153604.3:c.*4731A>G, NM_001146312.3:c.*4731A>G, NM_001146312.2:c.*4731A>G, NM_001378306.1:c.*4731A>G, XM_017025342.1:c.*4731A>G, XM_005256863.1:c.*4731A>G

Select item 14907310384.

rs1490731038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:12767953 (GRCh38)
17:12671270 (GRCh37)
Canonical SPDI:: NC_000017.11:12767952:G:T
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.12767953G>T, NC_000017.10:g.12671270G>T, NG_012972.1:g.107064G>T, NM_153604.4:c.*4309G>T, NM_153604.3:c.*4309G>T, NM_001146312.3:c.*4309G>T, NM_001146312.2:c.*4309G>T, NM_001378306.1:c.*4309G>T, XM_017025342.1:c.*4309G>T, XM_005256863.1:c.*4309G>T

Select item 14903982475.

rs1490398247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12746001 (GRCh38)
17:12649318 (GRCh37)
Canonical SPDI:: NC_000017.11:12746000:A:G
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.12746001A>G, NC_000017.10:g.12649318A>G, NG_012972.1:g.85112A>G, NM_153604.4:c.1054A>G, NM_153604.3:c.1054A>G, NM_153604.2:c.1054A>G, NM_001146312.3:c.1054A>G, NM_001146312.2:c.1054A>G, NM_001146312.1:c.1054A>G, NM_001378306.1:c.817A>G, XM_017025342.1:c.928A>G, XM_005256863.1:c.1054A>G, NM_001146313.1:c.766A>G, NP_705832.1:p.Ser352Gly, NP_001139784.1:p.Ser352Gly, NP_001365235.1:p.Ser273Gly, XP_016880831.1:p.Ser310Gly, XP_005256920.1:p.Ser352Gly

Select item 14903560136.

rs1490356013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12717407 (GRCh38)
17:12620724 (GRCh37)
Canonical SPDI:: NC_000017.11:12717406:T:C
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12717407T>C, NC_000017.10:g.12620724T>C, NG_012972.1:g.56518T>C, NM_153604.4:c.239T>C, NM_153604.3:c.239T>C, NM_153604.2:c.239T>C, NM_001146312.3:c.239T>C, NM_001146312.2:c.239T>C, NM_001146312.1:c.239T>C, NM_001378306.1:c.2T>C, XM_017025342.1:c.239T>C, XM_005256863.1:c.239T>C, NP_705832.1:p.Met80Thr, NP_001139784.1:p.Met80Thr, NP_001365235.1:p.Met1Thr, XP_016880831.1:p.Met80Thr, XP_005256920.1:p.Met80Thr

Select item 14903048717.

rs1490304871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12744303 (GRCh38)
17:12647620 (GRCh37)
Canonical SPDI:: NC_000017.11:12744302:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12744303C>T, NC_000017.10:g.12647620C>T, NG_012972.1:g.83414C>T, NM_153604.4:c.838C>T, NM_153604.3:c.838C>T, NM_153604.2:c.838C>T, NM_001146312.3:c.838C>T, NM_001146312.2:c.838C>T, NM_001146312.1:c.838C>T, NM_001378306.1:c.601C>T, XM_017025342.1:c.712C>T, XM_005256863.1:c.838C>T, NM_001146313.1:c.550C>T, NP_705832.1:p.Pro280Ser, NP_001139784.1:p.Pro280Ser, NP_001365235.1:p.Pro201Ser, XP_016880831.1:p.Pro238Ser, XP_005256920.1:p.Pro280Ser

Select item 14902694428.

rs1490269442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12752683 (GRCh38)
17:12656000 (GRCh37)
Canonical SPDI:: NC_000017.11:12752682:G:A
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12752683G>A, NC_000017.10:g.12656000G>A, NG_012972.1:g.91794G>A, NM_153604.4:c.1395G>A, NM_153604.3:c.1395G>A, NM_153604.2:c.1395G>A, NM_001146312.3:c.1395G>A, NM_001146312.2:c.1395G>A, NM_001146312.1:c.1395G>A, NM_001378306.1:c.1158G>A, XM_017025342.1:c.1269G>A, XM_005256863.1:c.1395G>A, NM_001146313.1:c.1107G>A

Select item 14902100099.

rs1490210009 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGGGAGGCGCCAGTTTT>- [Show Flanks]
Chromosome:: 17:12666009 (GRCh38)
17:12569326 (GRCh37)
Canonical SPDI:: NC_000017.11:12666008:GGGGGAGGCGCCAGTTTT:
Gene:: MYOCD (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.12666009_12666026del, NC_000017.10:g.12569326_12569343del, NG_012972.1:g.5120_5137del, NM_153604.4:c.-180_-163del, NM_153604.3:c.-180_-163del, NM_153604.2:c.-180_-163del, NM_001146312.3:c.-180_-163del, NM_001146312.2:c.-180_-163del, NM_001146312.1:c.-180_-163del, NM_001378306.1:c.-461_-444del, XM_017025342.1:c.-180_-163del, XM_005256863.1:c.-180_-163del

Select item 149012272010.

rs1490122720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12744209 (GRCh38)
17:12647526 (GRCh37)
Canonical SPDI:: NC_000017.11:12744208:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.12744209C>T, NC_000017.10:g.12647526C>T, NG_012972.1:g.83320C>T, NM_153604.4:c.744C>T, NM_153604.3:c.744C>T, NM_153604.2:c.744C>T, NM_001146312.3:c.744C>T, NM_001146312.2:c.744C>T, NM_001146312.1:c.744C>T, NM_001378306.1:c.507C>T, XM_017025342.1:c.618C>T, XM_005256863.1:c.744C>T, NM_001146313.1:c.456C>T

Select item 148991534911.

rs1489915349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:12768946 (GRCh38)
17:12672263 (GRCh37)
Canonical SPDI:: NC_000017.11:12768945:G:T
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12768946G>T, NC_000017.10:g.12672263G>T, NG_012972.1:g.108057G>T, NM_153604.4:c.*5302G>T, NM_153604.3:c.*5302G>T, NM_001146312.3:c.*5302G>T, NM_001146312.2:c.*5302G>T, NM_001378306.1:c.*5302G>T, XM_017025342.1:c.*5302G>T, XM_005256863.1:c.*5302G>T

Select item 148967662412.

rs1489676624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:12767870 (GRCh38)
17:12671187 (GRCh37)
Canonical SPDI:: NC_000017.11:12767869:C:A
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.12767870C>A, NC_000017.10:g.12671187C>A, NG_012972.1:g.106981C>A, NM_153604.4:c.*4226C>A, NM_153604.3:c.*4226C>A, NM_001146312.3:c.*4226C>A, NM_001146312.2:c.*4226C>A, NM_001378306.1:c.*4226C>A, XM_017025342.1:c.*4226C>A, XM_005256863.1:c.*4226C>A

Select item 148894015713.

rs1488940157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:12753070 (GRCh38)
17:12656387 (GRCh37)
Canonical SPDI:: NC_000017.11:12753069:A:C
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12753070A>C, NC_000017.10:g.12656387A>C, NG_012972.1:g.92181A>C, NM_153604.4:c.1782A>C, NM_153604.3:c.1782A>C, NM_153604.2:c.1782A>C, NM_001146312.3:c.1782A>C, NM_001146312.2:c.1782A>C, NM_001146312.1:c.1782A>C, NM_001378306.1:c.1545A>C, XM_017025342.1:c.1656A>C, XM_005256863.1:c.1782A>C, NM_001146313.1:c.1494A>C

Select item 148892520914.

rs1488925209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:12764004 (GRCh38)
17:12667321 (GRCh37)
Canonical SPDI:: NC_000017.11:12764003:A:C
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.12764004A>C, NC_000017.10:g.12667321A>C, NG_012972.1:g.103115A>C, NM_153604.4:c.*360A>C, NM_153604.3:c.*360A>C, NM_153604.2:c.*360A>C, NM_001146312.3:c.*360A>C, NM_001146312.2:c.*360A>C, NM_001146312.1:c.*360A>C, NM_001378306.1:c.*360A>C, XM_017025342.1:c.*360A>C, XM_005256863.1:c.*360A>C

Select item 148854896015.

rs1488548960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12767258 (GRCh38)
17:12670575 (GRCh37)
Canonical SPDI:: NC_000017.11:12767257:T:C
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
HGVS:: NC_000017.11:g.12767258T>C, NC_000017.10:g.12670575T>C, NG_012972.1:g.106369T>C, NM_153604.4:c.*3614T>C, NM_153604.3:c.*3614T>C, NM_153604.2:c.*3614T>C, NM_001146312.3:c.*3614T>C, NM_001146312.2:c.*3614T>C, NM_001146312.1:c.*3614T>C, NM_001378306.1:c.*3614T>C, XM_017025342.1:c.*3614T>C, XM_005256863.1:c.*3614T>C

Select item 148807388716.

rs1488073887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12766904 (GRCh38)
17:12670221 (GRCh37)
Canonical SPDI:: NC_000017.11:12766903:T:C
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12766904T>C, NC_000017.10:g.12670221T>C, NG_012972.1:g.106015T>C, NM_153604.4:c.*3260T>C, NM_153604.3:c.*3260T>C, NM_153604.2:c.*3260T>C, NM_001146312.3:c.*3260T>C, NM_001146312.2:c.*3260T>C, NM_001146312.1:c.*3260T>C, NM_001378306.1:c.*3260T>C, XM_017025342.1:c.*3260T>C, XM_005256863.1:c.*3260T>C

Select item 148771405817.

rs1487714058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:12768834 (GRCh38)
17:12672151 (GRCh37)
Canonical SPDI:: NC_000017.11:12768833:G:T
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.12768834G>T, NC_000017.10:g.12672151G>T, NG_012972.1:g.107945G>T, NM_153604.4:c.*5190G>T, NM_153604.3:c.*5190G>T, NM_001146312.3:c.*5190G>T, NM_001146312.2:c.*5190G>T, NM_001378306.1:c.*5190G>T, XM_017025342.1:c.*5190G>T, XM_005256863.1:c.*5190G>T

Select item 148719734418.

rs1487197344 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:12765742 (GRCh38)
17:12669059 (GRCh37)
Canonical SPDI:: NC_000017.11:12765741:AA:A
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.12765743del, NC_000017.10:g.12669060del, NG_012972.1:g.104854del, NM_153604.4:c.*2099del, NM_153604.3:c.*2099del, NM_153604.2:c.*2099del, NM_001146312.3:c.*2099del, NM_001146312.2:c.*2099del, NM_001146312.1:c.*2099del, NM_001378306.1:c.*2099del, XM_017025342.1:c.*2099del, XM_005256863.1:c.*2099del

Select item 148702267219.

rs1487022672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:12763876 (GRCh38)
17:12667193 (GRCh37)
Canonical SPDI:: NC_000017.11:12763875:G:T
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.12763876G>T, NC_000017.10:g.12667193G>T, NG_012972.1:g.102987G>T, NM_153604.4:c.*232G>T, NM_153604.3:c.*232G>T, NM_153604.2:c.*232G>T, NM_001146312.3:c.*232G>T, NM_001146312.2:c.*232G>T, NM_001146312.1:c.*232G>T, NM_001378306.1:c.*232G>T, XM_017025342.1:c.*232G>T, XM_005256863.1:c.*232G>T

Select item 148589078220.

rs1485890782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:12764228 (GRCh38)
17:12667545 (GRCh37)
Canonical SPDI:: NC_000017.11:12764227:C:G
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.12764228C>G, NC_000017.10:g.12667545C>G, NG_012972.1:g.103339C>G, NM_153604.4:c.*584C>G, NM_153604.3:c.*584C>G, NM_153604.2:c.*584C>G, NM_001146312.3:c.*584C>G, NM_001146312.2:c.*584C>G, NM_001146312.1:c.*584C>G, NM_001378306.1:c.*584C>G, XM_017025342.1:c.*584C>G, XM_005256863.1:c.*584C>G

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