SNP Links for Gene (Select 51660) - SNP

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Select item 14914297881.

rs1491429788 has merged into rs11370568 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:166368566 (GRCh38)
6:166782054 (GRCh37)
Canonical SPDI:: NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:166368557:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
A=0.4976/2492 (1000Genomes)
HGVS:: NC_000006.12:g.166368566_166368576del, NC_000006.12:g.166368568_166368576del, NC_000006.12:g.166368569_166368576del, NC_000006.12:g.166368570_166368576del, NC_000006.12:g.166368571_166368576del, NC_000006.12:g.166368572_166368576del, NC_000006.12:g.166368574_166368576del, NC_000006.12:g.166368575_166368576del, NC_000006.12:g.166368576del, NC_000006.12:g.166368576dup, NC_000006.12:g.166368575_166368576dup, NC_000006.12:g.166368574_166368576dup, NC_000006.12:g.166368573_166368576dup, NC_000006.12:g.166368571_166368576dup, NC_000006.12:g.166368570_166368576dup, NC_000006.12:g.166368569_166368576dup, NC_000006.12:g.166368568_166368576dup, NC_000006.12:g.166368562_166368576dup, NC_000006.11:g.166782054_166782064del, NC_000006.11:g.166782056_166782064del, NC_000006.11:g.166782057_166782064del, NC_000006.11:g.166782058_166782064del, NC_000006.11:g.166782059_166782064del, NC_000006.11:g.166782060_166782064del, NC_000006.11:g.166782062_166782064del, NC_000006.11:g.166782063_166782064del, NC_000006.11:g.166782064del, NC_000006.11:g.166782064dup, NC_000006.11:g.166782063_166782064dup, NC_000006.11:g.166782062_166782064dup, NC_000006.11:g.166782061_166782064dup, NC_000006.11:g.166782059_166782064dup, NC_000006.11:g.166782058_166782064dup, NC_000006.11:g.166782057_166782064dup, NC_000006.11:g.166782056_166782064dup, NC_000006.11:g.166782050_166782064dup, NG_032888.1:g.19446_19456del, NG_032888.1:g.19448_19456del, NG_032888.1:g.19449_19456del, NG_032888.1:g.19450_19456del, NG_032888.1:g.19451_19456del, NG_032888.1:g.19452_19456del, NG_032888.1:g.19454_19456del, NG_032888.1:g.19455_19456del, NG_032888.1:g.19456del, NG_032888.1:g.19456dup, NG_032888.1:g.19455_19456dup, NG_032888.1:g.19454_19456dup, NG_032888.1:g.19453_19456dup, NG_032888.1:g.19451_19456dup, NG_032888.1:g.19450_19456dup, NG_032888.1:g.19449_19456dup, NG_032888.1:g.19448_19456dup, NG_032888.1:g.19442_19456dup

Select item 14911665352.

rs1491166535 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:166368558 (GRCh38)
6:166782047 (GRCh37)
Canonical SPDI:: NC_000006.12:166368558::G
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000097/1 (GnomAD)
HGVS:: NC_000006.12:g.166368558_166368559insG, NC_000006.11:g.166782046_166782047insG, NG_032888.1:g.19455_19456insC

Select item 14911192153.

rs1491119215 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:166378418 (GRCh38)
6:166791906 (GRCh37)
Canonical SPDI:: NC_000006.12:166378417:AT:
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00014/2 (TOMMO)
-=0.00029/23 (GnomAD)
-=0.0013/5 (ALSPAC)
-=0.00512/19 (TWINSUK)
HGVS:: NC_000006.12:g.166378418_166378419del, NC_000006.11:g.166791906_166791907del, NG_032888.1:g.9595_9596del

Select item 14910852064.

rs1491085206 has merged into rs3049292 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:166378434 (GRCh38)
6:166791922 (GRCh37)
Canonical SPDI:: NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:166378418:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000006.12:g.166378420GT[7], NC_000006.12:g.166378420GT[8], NC_000006.12:g.166378420GT[9], NC_000006.12:g.166378420GT[10], NC_000006.12:g.166378420GT[11], NC_000006.12:g.166378420GT[13], NC_000006.12:g.166378420GT[14], NC_000006.12:g.166378420GT[15], NC_000006.12:g.166378420GT[16], NC_000006.12:g.166378420GT[17], NC_000006.12:g.166378420GT[18], NC_000006.12:g.166378420GT[19], NC_000006.12:g.166378420GT[20], NC_000006.11:g.166791908GT[7], NC_000006.11:g.166791908GT[8], NC_000006.11:g.166791908GT[9], NC_000006.11:g.166791908GT[10], NC_000006.11:g.166791908GT[11], NC_000006.11:g.166791908GT[13], NC_000006.11:g.166791908GT[14], NC_000006.11:g.166791908GT[15], NC_000006.11:g.166791908GT[16], NC_000006.11:g.166791908GT[17], NC_000006.11:g.166791908GT[18], NC_000006.11:g.166791908GT[19], NC_000006.11:g.166791908GT[20], NG_032888.1:g.9572CA[7], NG_032888.1:g.9572CA[8], NG_032888.1:g.9572CA[9], NG_032888.1:g.9572CA[10], NG_032888.1:g.9572CA[11], NG_032888.1:g.9572CA[13], NG_032888.1:g.9572CA[14], NG_032888.1:g.9572CA[15], NG_032888.1:g.9572CA[16], NG_032888.1:g.9572CA[17], NG_032888.1:g.9572CA[18], NG_032888.1:g.9572CA[19], NG_032888.1:g.9572CA[20]

Select item 14909706145.

rs1490970614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:166384716 (GRCh38)
6:166798204 (GRCh37)
Canonical SPDI:: NC_000006.12:166384715:A:G
Gene:: MPC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166384716A>G, NC_000006.11:g.166798204A>G, NG_032888.1:g.3298T>C

Select item 14909483316.

rs1490948331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:166370325 (GRCh38)
6:166783813 (GRCh37)
Canonical SPDI:: NC_000006.12:166370324:C:G,NC_000006.12:166370324:C:T
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166370325C>G, NC_000006.12:g.166370325C>T, NC_000006.11:g.166783813C>G, NC_000006.11:g.166783813C>T, NG_032888.1:g.17689G>C, NG_032888.1:g.17689G>A

Select item 14906187387.

rs1490618738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166368665 (GRCh38)
6:166782153 (GRCh37)
Canonical SPDI:: NC_000006.12:166368664:G:A
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166368665G>A, NC_000006.11:g.166782153G>A, NG_032888.1:g.19349C>T

Select item 14905786668.

rs1490578666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:166379190 (GRCh38)
6:166792678 (GRCh37)
Canonical SPDI:: NC_000006.12:166379189:T:A,NC_000006.12:166379189:T:C
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166379190T>A, NC_000006.12:g.166379190T>C, NC_000006.11:g.166792678T>A, NC_000006.11:g.166792678T>C, NG_032888.1:g.8824A>T, NG_032888.1:g.8824A>G

Select item 14904319099.

rs1490431909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:166369219 (GRCh38)
6:166782707 (GRCh37)
Canonical SPDI:: NC_000006.12:166369218:T:C
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166369219T>C, NC_000006.11:g.166782707T>C, NG_032888.1:g.18795A>G

Select item 149031485110.

rs1490314851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166373524 (GRCh38)
6:166787012 (GRCh37)
Canonical SPDI:: NC_000006.12:166373523:C:T
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166373524C>T, NC_000006.11:g.166787012C>T, NG_032888.1:g.14490G>A

Select item 149030000711.

rs1490300007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:166381321 (GRCh38)
6:166794809 (GRCh37)
Canonical SPDI:: NC_000006.12:166381320:T:C
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.166381321T>C, NC_000006.11:g.166794809T>C, NG_032888.1:g.6693A>G

Select item 148980202912.

rs1489802029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:166369669 (GRCh38)
6:166783157 (GRCh37)
Canonical SPDI:: NC_000006.12:166369668:T:G
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166369669T>G, NC_000006.11:g.166783157T>G, NG_032888.1:g.18345A>C

Select item 148943963113.

rs1489439631 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:166380959 (GRCh38)
6:166794448 (GRCh37)
Canonical SPDI:: NC_000006.12:166380959::G
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00211/25 (ALFA)
HGVS:: NC_000006.12:g.166380959_166380960insG, NC_000006.11:g.166794447_166794448insG, NG_032888.1:g.7054_7055insC

Select item 148938799714.

rs1489387997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:166380241 (GRCh38)
6:166793729 (GRCh37)
Canonical SPDI:: NC_000006.12:166380240:T:A
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166380241T>A, NC_000006.11:g.166793729T>A, NG_032888.1:g.7773A>T

Select item 148911857615.

rs1489118576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:166373812 (GRCh38)
6:166787300 (GRCh37)
Canonical SPDI:: NC_000006.12:166373811:T:G
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.166373812T>G, NC_000006.11:g.166787300T>G, NG_032888.1:g.14202A>C

Select item 148855266916.

rs1488552669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:166373172 (GRCh38)
6:166786660 (GRCh37)
Canonical SPDI:: NC_000006.12:166373171:T:C
Gene:: MPC1 (Varview)
Functional Consequence:: intron_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_000006.12:g.166373172T>C, NC_000006.11:g.166786660T>C, NG_032888.1:g.14842A>G

Select item 148847001417.

rs1488470014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:166366460 (GRCh38)
6:166779948 (GRCh37)
Canonical SPDI:: NC_000006.12:166366459:A:T
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166366460A>T, NC_000006.11:g.166779948A>T, NG_032888.1:g.21554T>A

Select item 148833021718.

rs1488330217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166379320 (GRCh38)
6:166792808 (GRCh37)
Canonical SPDI:: NC_000006.12:166379319:C:T
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.166379320C>T, NC_000006.11:g.166792808C>T, NG_032888.1:g.8694G>A

Select item 148784817119.

rs1487848171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:166370924 (GRCh38)
6:166784412 (GRCh37)
Canonical SPDI:: NC_000006.12:166370923:A:T
Gene:: MPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.166370924A>T, NC_000006.11:g.166784412A>T, NG_032888.1:g.17090T>A

Select item 148779301320.

rs1487793013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166383496 (GRCh38)
6:166796984 (GRCh37)
Canonical SPDI:: NC_000006.12:166383495:C:T
Gene:: MPC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.166383496C>T, NC_000006.11:g.166796984C>T, NG_032888.1:g.4518G>A

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