SNP Links for Gene (Select 79847) - SNP

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Select item 14915601951.

rs1491560195 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:102476050 (GRCh38)
10:104235807 (GRCh37)
Canonical SPDI:: NC_000010.11:102476049:TG:
Gene:: MFSD13A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000058/8 (GnomAD)
HGVS:: NC_000010.11:g.102476050_102476051del, NC_000010.10:g.104235807_104235808del, XM_006717973.4:c.*66_*67del, XM_006717973.3:c.*66_*67del, XM_006717973.2:c.*66_*67del, XM_006717973.1:c.*66_*67del, NM_024789.4:c.*66_*67del, NM_024789.3:c.*66_*67del, XM_006717974.4:c.*66_*67del, XM_006717974.3:c.*66_*67del, XM_006717974.2:c.*66_*67del, XM_006717974.1:c.*66_*67del, XM_011540160.3:c.*66_*67del, XM_011540160.2:c.*66_*67del, XM_011540160.1:c.*66_*67del, XM_011540163.3:c.*66_*67del, XM_011540163.2:c.*66_*67del, XM_011540163.1:c.*66_*67del, XM_011540167.3:c.*66_*67del, XM_011540167.2:c.*66_*67del, XM_011540167.1:c.*66_*67del, XM_017016654.2:c.*66_*67del, XM_017016654.1:c.*66_*67del, XM_024448171.2:c.*66_*67del, XM_024448171.1:c.*66_*67del, XM_017016655.1:c.*66_*67del, XM_047425751.1:c.*66_*67del, XM_047425754.1:c.*66_*67del, XM_047425752.1:c.*66_*67del, XM_047425753.1:c.*66_*67del, XM_047425761.1:c.*66_*67del, XM_047425760.1:c.*66_*67del, XM_047425756.1:c.*66_*67del, XM_047425758.1:c.*66_*67del, XM_047425757.1:c.*66_*67del, XM_047425755.1:c.*66_*67del

Select item 14915553912.

rs1491555391 has merged into rs11312838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:102463184 (GRCh38)
10:104222941 (GRCh37)
Canonical SPDI:: NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102463169:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.154/771 (1000Genomes)
HGVS:: NC_000010.11:g.102463184_102463188del, NC_000010.11:g.102463185_102463188del, NC_000010.11:g.102463186_102463188del, NC_000010.11:g.102463187_102463188del, NC_000010.11:g.102463188del, NC_000010.11:g.102463188dup, NC_000010.11:g.102463187_102463188dup, NC_000010.11:g.102463179_102463188dup, NC_000010.10:g.104222941_104222945del, NC_000010.10:g.104222942_104222945del, NC_000010.10:g.104222943_104222945del, NC_000010.10:g.104222944_104222945del, NC_000010.10:g.104222945del, NC_000010.10:g.104222945dup, NC_000010.10:g.104222944_104222945dup, NC_000010.10:g.104222936_104222945dup

Select item 14915422823.

rs1491542282 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:102478338 (GRCh38)
10:104238095 (GRCh37)
Canonical SPDI:: NC_000010.11:102478337:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.102478338_102478339del, NC_000010.10:g.104238095_104238096del, NG_011901.1:g.29417_29418del

Select item 14915301774.

rs1491530177 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:102466482 (GRCh38)
10:104226239 (GRCh37)
Canonical SPDI:: NC_000010.11:102466481:CA:
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000010.11:g.102466482_102466483del, NC_000010.10:g.104226239_104226240del

Select item 14914970295.

rs1491497029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:102469552 (GRCh38)
10:104229309 (GRCh37)
Canonical SPDI:: NC_000010.11:102469550:TGT:T
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000039/4 (GnomAD)
HGVS:: NC_000010.11:g.102469552_102469553del, NC_000010.10:g.104229309_104229310del

Select item 14913570636.

rs1491357063 has merged into rs144147159 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:102478349 (GRCh38)
10:104238106 (GRCh37)
Canonical SPDI:: NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102478338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.102478349_102478363del, NC_000010.11:g.102478353_102478363del, NC_000010.11:g.102478354_102478363del, NC_000010.11:g.102478355_102478363del, NC_000010.11:g.102478356_102478363del, NC_000010.11:g.102478357_102478363del, NC_000010.11:g.102478358_102478363del, NC_000010.11:g.102478359_102478363del, NC_000010.11:g.102478360_102478363del, NC_000010.11:g.102478361_102478363del, NC_000010.11:g.102478362_102478363del, NC_000010.11:g.102478363del, NC_000010.11:g.102478363dup, NC_000010.11:g.102478362_102478363dup, NC_000010.11:g.102478361_102478363dup, NC_000010.11:g.102478360_102478363dup, NC_000010.11:g.102478359_102478363dup, NC_000010.11:g.102478358_102478363dup, NC_000010.11:g.102478357_102478363dup, NC_000010.11:g.102478356_102478363dup, NC_000010.11:g.102478355_102478363dup, NC_000010.11:g.102478354_102478363dup, NC_000010.11:g.102478363_102478364insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.102478363_102478364insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.104238106_104238120del, NC_000010.10:g.104238110_104238120del, NC_000010.10:g.104238111_104238120del, NC_000010.10:g.104238112_104238120del, NC_000010.10:g.104238113_104238120del, NC_000010.10:g.104238114_104238120del, NC_000010.10:g.104238115_104238120del, NC_000010.10:g.104238116_104238120del, NC_000010.10:g.104238117_104238120del, NC_000010.10:g.104238118_104238120del, NC_000010.10:g.104238119_104238120del, NC_000010.10:g.104238120del, NC_000010.10:g.104238120dup, NC_000010.10:g.104238119_104238120dup, NC_000010.10:g.104238118_104238120dup, NC_000010.10:g.104238117_104238120dup, NC_000010.10:g.104238116_104238120dup, NC_000010.10:g.104238115_104238120dup, NC_000010.10:g.104238114_104238120dup, NC_000010.10:g.104238113_104238120dup, NC_000010.10:g.104238112_104238120dup, NC_000010.10:g.104238111_104238120dup, NC_000010.10:g.104238120_104238121insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.104238120_104238121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011901.1:g.29403_29417del, NG_011901.1:g.29407_29417del, NG_011901.1:g.29408_29417del, NG_011901.1:g.29409_29417del, NG_011901.1:g.29410_29417del, NG_011901.1:g.29411_29417del, NG_011901.1:g.29412_29417del, NG_011901.1:g.29413_29417del, NG_011901.1:g.29414_29417del, NG_011901.1:g.29415_29417del, NG_011901.1:g.29416_29417del, NG_011901.1:g.29417del, NG_011901.1:g.29417dup, NG_011901.1:g.29416_29417dup, NG_011901.1:g.29415_29417dup, NG_011901.1:g.29414_29417dup, NG_011901.1:g.29413_29417dup, NG_011901.1:g.29412_29417dup, NG_011901.1:g.29411_29417dup, NG_011901.1:g.29410_29417dup, NG_011901.1:g.29409_29417dup, NG_011901.1:g.29408_29417dup, NG_011901.1:g.29417_29418insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011901.1:g.29417_29418insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910362557.

rs1491036255 has merged into rs148209156 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 10:102464801 (GRCh38)
10:104224558 (GRCh37)
Canonical SPDI:: NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:102464789:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.102464801_102464805del, NC_000010.11:g.102464803_102464805del, NC_000010.11:g.102464804_102464805del, NC_000010.11:g.102464805del, NC_000010.11:g.102464805dup, NC_000010.11:g.102464804_102464805dup, NC_000010.11:g.102464803_102464805dup, NC_000010.11:g.102464802_102464805dup, NC_000010.11:g.102464801_102464805dup, NC_000010.10:g.104224558_104224562del, NC_000010.10:g.104224560_104224562del, NC_000010.10:g.104224561_104224562del, NC_000010.10:g.104224562del, NC_000010.10:g.104224562dup, NC_000010.10:g.104224561_104224562dup, NC_000010.10:g.104224560_104224562dup, NC_000010.10:g.104224559_104224562dup, NC_000010.10:g.104224558_104224562dup

Select item 14909847338.

rs1490984733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102477540 (GRCh38)
10:104237297 (GRCh37)
Canonical SPDI:: NC_000010.11:102477539:G:A
Gene:: MFSD13A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.102477540G>A, NC_000010.10:g.104237297G>A, NG_011901.1:g.30216C>T

Select item 14909391529.

rs1490939152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102478476 (GRCh38)
10:104238233 (GRCh37)
Canonical SPDI:: NC_000010.11:102478475:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102478476C>T, NC_000010.10:g.104238233C>T, NG_011901.1:g.29280G>A

Select item 149085089110.

rs1490850891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:102459344 (GRCh38)
10:104219101 (GRCh37)
Canonical SPDI:: NC_000010.11:102459343:C:G,NC_000010.11:102459343:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.102459344C>G, NC_000010.11:g.102459344C>T, NC_000010.10:g.104219101C>G, NC_000010.10:g.104219101C>T

Select item 149067162611.

rs1490671626 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 10:102475308 (GRCh38)
10:104235066 (GRCh37)
Canonical SPDI:: NC_000010.11:102475308:A:AGA
Gene:: MFSD13A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.000253/3 (ALFA)
AG=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.102475309_102475310insGA, NC_000010.10:g.104235066_104235067insGA

Select item 149060509312.

rs1490605093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102477459 (GRCh38)
10:104237216 (GRCh37)
Canonical SPDI:: NC_000010.11:102477458:G:A
Gene:: MFSD13A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102477459G>A, NC_000010.10:g.104237216G>A, NG_011901.1:g.30297C>T

Select item 149059031313.

rs1490590313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102470915 (GRCh38)
10:104230672 (GRCh37)
Canonical SPDI:: NC_000010.11:102470914:C:G
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102470915C>G, NC_000010.10:g.104230672C>G, XM_006717973.4:c.502C>G, XM_006717973.3:c.502C>G, XM_006717973.2:c.502C>G, XM_006717973.1:c.502C>G, NM_024789.4:c.502C>G, NM_024789.3:c.502C>G, XM_006717974.4:c.502C>G, XM_006717974.3:c.502C>G, XM_006717974.2:c.502C>G, XM_006717974.1:c.502C>G, XM_011540160.3:c.502C>G, XM_011540160.2:c.502C>G, XM_011540160.1:c.502C>G, XM_011540163.3:c.502C>G, XM_011540163.2:c.502C>G, XM_011540163.1:c.502C>G, XM_017016654.2:c.502C>G, XM_017016654.1:c.502C>G, XM_017016661.2:c.502C>G, XM_017016661.1:c.502C>G, XM_017016662.2:c.502C>G, XM_017016662.1:c.502C>G, XM_024448172.2:c.502C>G, XM_024448172.1:c.502C>G, XM_017016655.1:c.502C>G, XM_047425751.1:c.502C>G, XM_047425754.1:c.502C>G, XM_047425752.1:c.502C>G, XM_047425753.1:c.502C>G, XM_047425761.1:c.-312C>G, XM_047425760.1:c.-312C>G, XM_047425759.1:c.502C>G, XP_006718036.1:p.Leu168Val, NP_079065.2:p.Leu168Val, XP_006718037.1:p.Leu168Val, XP_011538462.1:p.Leu168Val, XP_011538465.1:p.Leu168Val, XP_016872143.1:p.Leu168Val, XP_016872150.1:p.Leu168Val, XP_016872151.1:p.Leu168Val, XP_024303940.1:p.Leu168Val, XP_016872144.1:p.Leu168Val, XP_047281707.1:p.Leu168Val, XP_047281710.1:p.Leu168Val, XP_047281708.1:p.Leu168Val, XP_047281709.1:p.Leu168Val, XP_047281715.1:p.Leu168Val

Select item 149017202014.

rs1490172020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102474067 (GRCh38)
10:104233824 (GRCh37)
Canonical SPDI:: NC_000010.11:102474066:C:G
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102474067C>G, NC_000010.10:g.104233824C>G

Select item 149014616115.

rs1490146161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102463404 (GRCh38)
10:104223161 (GRCh37)
Canonical SPDI:: NC_000010.11:102463403:C:T
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_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_000010.11:g.102463404C>T, NC_000010.10:g.104223161C>T

Select item 149010914616.

rs1490109146 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 10:102478816 (GRCh38)
10:104238573 (GRCh37)
Canonical SPDI:: NC_000010.11:102478813:CTCCT:CT
Gene:: ACTR1A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102478816_102478818del, NC_000010.10:g.104238573_104238575del, NG_011901.1:g.28940_28942del

Select item 149004085017.

rs1490040850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:102462173 (GRCh38)
10:104221930 (GRCh37)
Canonical SPDI:: NC_000010.11:102462172:T:C
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.102462173T>C, NC_000010.10:g.104221930T>C

Select item 148998503118.

rs1489985031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:102464047 (GRCh38)
10:104223804 (GRCh37)
Canonical SPDI:: NC_000010.11:102464046:T:A
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102464047T>A, NC_000010.10:g.104223804T>A

Select item 148994425719.

rs1489944257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:102479300 (GRCh38)
10:104239057 (GRCh37)
Canonical SPDI:: NC_000010.11:102479299:G:A,NC_000010.11:102479299:G:C
Gene:: ACTR1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.102479300G>A, NC_000010.11:g.102479300G>C, NC_000010.10:g.104239057G>A, NC_000010.10:g.104239057G>C, NG_011901.1:g.28456C>T, NG_011901.1:g.28456C>G, NM_005736.4:c.*1563C>T, NM_005736.4:c.*1563C>G, NM_005736.3:c.*1563C>T, NM_005736.3:c.*1563C>G, XM_047424427.1:c.*1563C>T, XM_047424427.1:c.*1563C>G

Select item 148992113320.

rs1489921133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:102472262 (GRCh38)
10:104232019 (GRCh37)
Canonical SPDI:: NC_000010.11:102472261:A:G
Gene:: MFSD13A (Varview), LOC124902493 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102472262A>G, NC_000010.10:g.104232019A>G

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