SNP Links for Protein (Select 530417264) - SNP

Links from Protein

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Select item 14887584241.

rs1488758424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:45090503 (GRCh38)
19:45593761 (GRCh37)
Canonical SPDI:: NC_000019.10:45090502:A:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_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.45090503A>T, NC_000019.9:g.45593761A>T, XM_005259263.6:c.389A>T, XM_005259263.5:c.389A>T, XM_005259263.4:c.389A>T, XM_005259263.3:c.389A>T, XM_005259263.2:c.389A>T, XM_005259263.1:c.389A>T, NM_024707.3:c.389A>T, NM_024707.2:c.389A>T, NM_001319055.2:c.389A>T, NM_001319055.1:c.389A>T, NM_001007270.2:c.389A>T, NM_001007270.1:c.389A>T, NM_001007269.2:c.389A>T, NM_001007269.1:c.389A>T, NM_001319054.1:c.389A>T, XP_005259320.1:p.Lys130Met, NP_078983.1:p.Lys130Met, NP_001305984.1:p.Lys130Met, NP_001007271.1:p.Lys130Met, NP_001007270.1:p.Lys130Met, NP_001305983.1:p.Lys130Met

Select item 14803933712.

rs1480393371 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGTGGCTTTGCCCCTG>- [Show Flanks]
Chromosome:: 19:45090180 (GRCh38)
19:45593438 (GRCh37)
Canonical SPDI:: NC_000019.10:45090178:GCCGTGGCTTTGCCCCTG:G
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090180_45090196del, NC_000019.9:g.45593438_45593454del, XM_005259263.6:c.66_82del, XM_005259263.5:c.66_82del, XM_005259263.4:c.66_82del, XM_005259263.3:c.66_82del, XM_005259263.2:c.66_82del, XM_005259263.1:c.66_82del, NM_024707.3:c.66_82del, NM_024707.2:c.66_82del, NM_001319055.2:c.66_82del, NM_001319055.1:c.66_82del, NM_001007270.2:c.66_82del, NM_001007270.1:c.66_82del, NM_001007269.2:c.66_82del, NM_001007269.1:c.66_82del, NM_001319054.1:c.66_82del, NR_134887.1:n.197_213del, XP_005259320.1:p.Ser22fs, NP_078983.1:p.Ser22fs, NP_001305984.1:p.Ser22fs, NP_001007271.1:p.Ser22fs, NP_001007270.1:p.Ser22fs, NP_001305983.1:p.Ser22fs

Select item 14744815143.

rs1474481514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45090243 (GRCh38)
19:45593501 (GRCh37)
Canonical SPDI:: NC_000019.10:45090242:G:A
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090243G>A, NC_000019.9:g.45593501G>A, XM_005259263.6:c.129G>A, XM_005259263.5:c.129G>A, XM_005259263.4:c.129G>A, XM_005259263.3:c.129G>A, XM_005259263.2:c.129G>A, XM_005259263.1:c.129G>A, NM_024707.3:c.129G>A, NM_024707.2:c.129G>A, NM_001319055.2:c.129G>A, NM_001319055.1:c.129G>A, NM_001007270.2:c.129G>A, NM_001007270.1:c.129G>A, NM_001007269.2:c.129G>A, NM_001007269.1:c.129G>A, NM_001319054.1:c.129G>A, NR_134887.1:n.149C>T

Select item 14693975564.

rs1469397556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45090132 (GRCh38)
19:45593390 (GRCh37)
Canonical SPDI:: NC_000019.10:45090131:C:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45090132C>T, NC_000019.9:g.45593390C>T, XM_005259263.6:c.18C>T, XM_005259263.5:c.18C>T, XM_005259263.4:c.18C>T, XM_005259263.3:c.18C>T, XM_005259263.2:c.18C>T, XM_005259263.1:c.18C>T, NM_024707.3:c.18C>T, NM_024707.2:c.18C>T, NM_001319055.2:c.18C>T, NM_001319055.1:c.18C>T, NM_001007270.2:c.18C>T, NM_001007270.1:c.18C>T, NM_001007269.2:c.18C>T, NM_001007269.1:c.18C>T, NM_001319054.1:c.18C>T, NR_134887.1:n.260G>A

Select item 14693775645.

rs1469377564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45090449 (GRCh38)
19:45593707 (GRCh37)
Canonical SPDI:: NC_000019.10:45090448:G:A
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090449G>A, NC_000019.9:g.45593707G>A, XM_005259263.6:c.335G>A, XM_005259263.5:c.335G>A, XM_005259263.4:c.335G>A, XM_005259263.3:c.335G>A, XM_005259263.2:c.335G>A, XM_005259263.1:c.335G>A, NM_024707.3:c.335G>A, NM_024707.2:c.335G>A, NM_001319055.2:c.335G>A, NM_001319055.1:c.335G>A, NM_001007270.2:c.335G>A, NM_001007270.1:c.335G>A, NM_001007269.2:c.335G>A, NM_001007269.1:c.335G>A, NM_001319054.1:c.335G>A, XP_005259320.1:p.Gly112Asp, NP_078983.1:p.Gly112Asp, NP_001305984.1:p.Gly112Asp, NP_001007271.1:p.Gly112Asp, NP_001007270.1:p.Gly112Asp, NP_001305983.1:p.Gly112Asp

Select item 14641889746.

rs1464188974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45090261 (GRCh38)
19:45593519 (GRCh37)
Canonical SPDI:: NC_000019.10:45090260:A:G
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45090261A>G, NC_000019.9:g.45593519A>G, XM_005259263.6:c.147A>G, XM_005259263.5:c.147A>G, XM_005259263.4:c.147A>G, XM_005259263.3:c.147A>G, XM_005259263.2:c.147A>G, XM_005259263.1:c.147A>G, NM_024707.3:c.147A>G, NM_024707.2:c.147A>G, NM_001319055.2:c.147A>G, NM_001319055.1:c.147A>G, NM_001007270.2:c.147A>G, NM_001007270.1:c.147A>G, NM_001007269.2:c.147A>G, NM_001007269.1:c.147A>G, NM_001319054.1:c.147A>G, NR_134887.1:n.131T>C

Select item 14567928417.

rs1456792841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45090133 (GRCh38)
19:45593391 (GRCh37)
Canonical SPDI:: NC_000019.10:45090132:A:G
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45090133A>G, NC_000019.9:g.45593391A>G, XM_005259263.6:c.19A>G, XM_005259263.5:c.19A>G, XM_005259263.4:c.19A>G, XM_005259263.3:c.19A>G, XM_005259263.2:c.19A>G, XM_005259263.1:c.19A>G, NM_024707.3:c.19A>G, NM_024707.2:c.19A>G, NM_001319055.2:c.19A>G, NM_001319055.1:c.19A>G, NM_001007270.2:c.19A>G, NM_001007270.1:c.19A>G, NM_001007269.2:c.19A>G, NM_001007269.1:c.19A>G, NM_001319054.1:c.19A>G, NR_134887.1:n.259T>C, XP_005259320.1:p.Ile7Val, NP_078983.1:p.Ile7Val, NP_001305984.1:p.Ile7Val, NP_001007271.1:p.Ile7Val, NP_001007270.1:p.Ile7Val, NP_001305983.1:p.Ile7Val

Select item 14513331098.

rs1451333109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45090322 (GRCh38)
19:45593580 (GRCh37)
Canonical SPDI:: NC_000019.10:45090321:C:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45090322C>T, NC_000019.9:g.45593580C>T, XM_005259263.6:c.208C>T, XM_005259263.5:c.208C>T, XM_005259263.4:c.208C>T, XM_005259263.3:c.208C>T, XM_005259263.2:c.208C>T, XM_005259263.1:c.208C>T, NM_024707.3:c.208C>T, NM_024707.2:c.208C>T, NM_001319055.2:c.208C>T, NM_001319055.1:c.208C>T, NM_001007270.2:c.208C>T, NM_001007270.1:c.208C>T, NM_001007269.2:c.208C>T, NM_001007269.1:c.208C>T, NM_001319054.1:c.208C>T, NR_134887.1:n.70G>A

Select item 14457463739.

rs1445746373 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:45090314 (GRCh38)
19:45593573 (GRCh37)
Canonical SPDI:: NC_000019.10:45090314:CC:CCC
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090316dup, NC_000019.9:g.45593574dup, XM_005259263.6:c.202dup, XM_005259263.5:c.202dup, XM_005259263.4:c.202dup, XM_005259263.3:c.202dup, XM_005259263.2:c.202dup, XM_005259263.1:c.202dup, NM_024707.3:c.202dup, NM_024707.2:c.202dup, NM_001319055.2:c.202dup, NM_001319055.1:c.202dup, NM_001007270.2:c.202dup, NM_001007270.1:c.202dup, NM_001007269.2:c.202dup, NM_001007269.1:c.202dup, NM_001319054.1:c.202dup, NR_134887.1:n.77dup, XP_005259320.1:p.Arg68fs, NP_078983.1:p.Arg68fs, NP_001305984.1:p.Arg68fs, NP_001007271.1:p.Arg68fs, NP_001007270.1:p.Arg68fs, NP_001305983.1:p.Arg68fs

Select item 143224177510.

rs1432241775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45090330 (GRCh38)
19:45593588 (GRCh37)
Canonical SPDI:: NC_000019.10:45090329:C:G,NC_000019.10:45090329:C:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.45090330C>G, NC_000019.10:g.45090330C>T, NC_000019.9:g.45593588C>G, NC_000019.9:g.45593588C>T, XM_005259263.6:c.216C>G, XM_005259263.6:c.216C>T, XM_005259263.5:c.216C>G, XM_005259263.5:c.216C>T, XM_005259263.4:c.216C>G, XM_005259263.4:c.216C>T, XM_005259263.3:c.216C>G, XM_005259263.3:c.216C>T, XM_005259263.2:c.216C>G, XM_005259263.2:c.216C>T, XM_005259263.1:c.216C>G, XM_005259263.1:c.216C>T, NM_024707.3:c.216C>G, NM_024707.3:c.216C>T, NM_024707.2:c.216C>G, NM_024707.2:c.216C>T, NM_001319055.2:c.216C>G, NM_001319055.2:c.216C>T, NM_001319055.1:c.216C>G, NM_001319055.1:c.216C>T, NM_001007270.2:c.216C>G, NM_001007270.2:c.216C>T, NM_001007270.1:c.216C>G, NM_001007270.1:c.216C>T, NM_001007269.2:c.216C>G, NM_001007269.2:c.216C>T, NM_001007269.1:c.216C>G, NM_001007269.1:c.216C>T, NM_001319054.1:c.216C>G, NM_001319054.1:c.216C>T, NR_134887.1:n.62G>C, NR_134887.1:n.62G>A

Select item 142786495711.

rs1427864957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45090177 (GRCh38)
19:45593435 (GRCh37)
Canonical SPDI:: NC_000019.10:45090176:C:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090177C>T, NC_000019.9:g.45593435C>T, XM_005259263.6:c.63C>T, XM_005259263.5:c.63C>T, XM_005259263.4:c.63C>T, XM_005259263.3:c.63C>T, XM_005259263.2:c.63C>T, XM_005259263.1:c.63C>T, NM_024707.3:c.63C>T, NM_024707.2:c.63C>T, NM_001319055.2:c.63C>T, NM_001319055.1:c.63C>T, NM_001007270.2:c.63C>T, NM_001007270.1:c.63C>T, NM_001007269.2:c.63C>T, NM_001007269.1:c.63C>T, NM_001319054.1:c.63C>T, NR_134887.1:n.215G>A

Select item 142512400812.

rs1425124008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:45090217 (GRCh38)
19:45593475 (GRCh37)
Canonical SPDI:: NC_000019.10:45090216:A:C
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45090217A>C, NC_000019.9:g.45593475A>C, XM_005259263.6:c.103A>C, XM_005259263.5:c.103A>C, XM_005259263.4:c.103A>C, XM_005259263.3:c.103A>C, XM_005259263.2:c.103A>C, XM_005259263.1:c.103A>C, NM_024707.3:c.103A>C, NM_024707.2:c.103A>C, NM_001319055.2:c.103A>C, NM_001319055.1:c.103A>C, NM_001007270.2:c.103A>C, NM_001007270.1:c.103A>C, NM_001007269.2:c.103A>C, NM_001007269.1:c.103A>C, NM_001319054.1:c.103A>C, NR_134887.1:n.175T>G

Select item 141997698813.

rs1419976988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45090123 (GRCh38)
19:45593381 (GRCh37)
Canonical SPDI:: NC_000019.10:45090122:T:C
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090123T>C, NC_000019.9:g.45593381T>C, XM_005259263.6:c.9T>C, XM_005259263.5:c.9T>C, XM_005259263.4:c.9T>C, XM_005259263.3:c.9T>C, XM_005259263.2:c.9T>C, XM_005259263.1:c.9T>C, NM_024707.3:c.9T>C, NM_024707.2:c.9T>C, NM_001319055.2:c.9T>C, NM_001319055.1:c.9T>C, NM_001007270.2:c.9T>C, NM_001007270.1:c.9T>C, NM_001007269.2:c.9T>C, NM_001007269.1:c.9T>C, NM_001319054.1:c.9T>C, NR_134887.1:n.269A>G

Select item 141148647914.

rs1411486479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45090188 (GRCh38)
19:45593446 (GRCh37)
Canonical SPDI:: NC_000019.10:45090187:T:C
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45090188T>C, NC_000019.9:g.45593446T>C, XM_005259263.6:c.74T>C, XM_005259263.5:c.74T>C, XM_005259263.4:c.74T>C, XM_005259263.3:c.74T>C, XM_005259263.2:c.74T>C, XM_005259263.1:c.74T>C, NM_024707.3:c.74T>C, NM_024707.2:c.74T>C, NM_001319055.2:c.74T>C, NM_001319055.1:c.74T>C, NM_001007270.2:c.74T>C, NM_001007270.1:c.74T>C, NM_001007269.2:c.74T>C, NM_001007269.1:c.74T>C, NM_001319054.1:c.74T>C, NR_134887.1:n.204A>G, XP_005259320.1:p.Phe25Ser, NP_078983.1:p.Phe25Ser, NP_001305984.1:p.Phe25Ser, NP_001007271.1:p.Phe25Ser, NP_001007270.1:p.Phe25Ser, NP_001305983.1:p.Phe25Ser

Select item 140447770515.

rs1404477705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45090127 (GRCh38)
19:45593385 (GRCh37)
Canonical SPDI:: NC_000019.10:45090126:G:A
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090127G>A, NC_000019.9:g.45593385G>A, XM_005259263.6:c.13G>A, XM_005259263.5:c.13G>A, XM_005259263.4:c.13G>A, XM_005259263.3:c.13G>A, XM_005259263.2:c.13G>A, XM_005259263.1:c.13G>A, NM_024707.3:c.13G>A, NM_024707.2:c.13G>A, NM_001319055.2:c.13G>A, NM_001319055.1:c.13G>A, NM_001007270.2:c.13G>A, NM_001007270.1:c.13G>A, NM_001007269.2:c.13G>A, NM_001007269.1:c.13G>A, NM_001319054.1:c.13G>A, NR_134887.1:n.265C>T, XP_005259320.1:p.Val5Met, NP_078983.1:p.Val5Met, NP_001305984.1:p.Val5Met, NP_001007271.1:p.Val5Met, NP_001007270.1:p.Val5Met, NP_001305983.1:p.Val5Met

Select item 140002799016.

rs1400027990 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:45090358 (GRCh38)
19:45593616 (GRCh37)
Canonical SPDI:: NC_000019.10:45090357:TT:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090359del, NC_000019.9:g.45593617del, XM_005259263.6:c.245del, XM_005259263.5:c.245del, XM_005259263.4:c.245del, XM_005259263.3:c.245del, XM_005259263.2:c.245del, XM_005259263.1:c.245del, NM_024707.3:c.245del, NM_024707.2:c.245del, NM_001319055.2:c.245del, NM_001319055.1:c.245del, NM_001007270.2:c.245del, NM_001007270.1:c.245del, NM_001007269.2:c.245del, NM_001007269.1:c.245del, NM_001319054.1:c.245del, NR_134887.1:n.34del, XP_005259320.1:p.Leu82fs, NP_078983.1:p.Leu82fs, NP_001305984.1:p.Leu82fs, NP_001007271.1:p.Leu82fs, NP_001007270.1:p.Leu82fs, NP_001305983.1:p.Leu82fs

Select item 139740734817.

rs1397407348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45090462 (GRCh38)
19:45593720 (GRCh37)
Canonical SPDI:: NC_000019.10:45090461:G:A
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45090462G>A, NC_000019.9:g.45593720G>A, XM_005259263.6:c.348G>A, XM_005259263.5:c.348G>A, XM_005259263.4:c.348G>A, XM_005259263.3:c.348G>A, XM_005259263.2:c.348G>A, XM_005259263.1:c.348G>A, NM_024707.3:c.348G>A, NM_024707.2:c.348G>A, NM_001319055.2:c.348G>A, NM_001319055.1:c.348G>A, NM_001007270.2:c.348G>A, NM_001007270.1:c.348G>A, NM_001007269.2:c.348G>A, NM_001007269.1:c.348G>A, NM_001319054.1:c.348G>A

Select item 138535190518.

rs1385351905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45090504 (GRCh38)
19:45593762 (GRCh37)
Canonical SPDI:: NC_000019.10:45090503:G:A
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45090504G>A, NC_000019.9:g.45593762G>A, XM_005259263.6:c.390G>A, XM_005259263.5:c.390G>A, XM_005259263.4:c.390G>A, XM_005259263.3:c.390G>A, XM_005259263.2:c.390G>A, XM_005259263.1:c.390G>A, NM_024707.3:c.390G>A, NM_024707.2:c.390G>A, NM_001319055.2:c.390G>A, NM_001319055.1:c.390G>A, NM_001007270.2:c.390G>A, NM_001007270.1:c.390G>A, NM_001007269.2:c.390G>A, NM_001007269.1:c.390G>A, NM_001319054.1:c.390G>A

Select item 138278080719.

rs1382780807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45090356 (GRCh38)
19:45593614 (GRCh37)
Canonical SPDI:: NC_000019.10:45090355:C:G,NC_000019.10:45090355:C:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.45090356C>G, NC_000019.10:g.45090356C>T, NC_000019.9:g.45593614C>G, NC_000019.9:g.45593614C>T, XM_005259263.6:c.242C>G, XM_005259263.6:c.242C>T, XM_005259263.5:c.242C>G, XM_005259263.5:c.242C>T, XM_005259263.4:c.242C>G, XM_005259263.4:c.242C>T, XM_005259263.3:c.242C>G, XM_005259263.3:c.242C>T, XM_005259263.2:c.242C>G, XM_005259263.2:c.242C>T, XM_005259263.1:c.242C>G, XM_005259263.1:c.242C>T, NM_024707.3:c.242C>G, NM_024707.3:c.242C>T, NM_024707.2:c.242C>G, NM_024707.2:c.242C>T, NM_001319055.2:c.242C>G, NM_001319055.2:c.242C>T, NM_001319055.1:c.242C>G, NM_001319055.1:c.242C>T, NM_001007270.2:c.242C>G, NM_001007270.2:c.242C>T, NM_001007270.1:c.242C>G, NM_001007270.1:c.242C>T, NM_001007269.2:c.242C>G, NM_001007269.2:c.242C>T, NM_001007269.1:c.242C>G, NM_001007269.1:c.242C>T, NM_001319054.1:c.242C>G, NM_001319054.1:c.242C>T, NR_134887.1:n.36G>C, NR_134887.1:n.36G>A, XP_005259320.1:p.Thr81Arg, XP_005259320.1:p.Thr81Met, NP_078983.1:p.Thr81Arg, NP_078983.1:p.Thr81Met, NP_001305984.1:p.Thr81Arg, NP_001305984.1:p.Thr81Met, NP_001007271.1:p.Thr81Arg, NP_001007271.1:p.Thr81Met, NP_001007270.1:p.Thr81Arg, NP_001007270.1:p.Thr81Met, NP_001305983.1:p.Thr81Arg, NP_001305983.1:p.Thr81Met

Select item 137379519720.

rs1373795197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45090143 (GRCh38)
19:45593401 (GRCh37)
Canonical SPDI:: NC_000019.10:45090142:C:T
Gene:: GEMIN7 (Varview), GEMIN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
HGVS:: NC_000019.10:g.45090143C>T, NC_000019.9:g.45593401C>T, XM_005259263.6:c.29C>T, XM_005259263.5:c.29C>T, XM_005259263.4:c.29C>T, XM_005259263.3:c.29C>T, XM_005259263.2:c.29C>T, XM_005259263.1:c.29C>T, NM_024707.3:c.29C>T, NM_024707.2:c.29C>T, NM_001319055.2:c.29C>T, NM_001319055.1:c.29C>T, NM_001007270.2:c.29C>T, NM_001007270.1:c.29C>T, NM_001007269.2:c.29C>T, NM_001007269.1:c.29C>T, NM_001319054.1:c.29C>T, NR_134887.1:n.249G>A, XP_005259320.1:p.Pro10Leu, NP_078983.1:p.Pro10Leu, NP_001305984.1:p.Pro10Leu, NP_001007271.1:p.Pro10Leu, NP_001007270.1:p.Pro10Leu, NP_001305983.1:p.Pro10Leu

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